It is crucial to examine the genetic diversity and structure of small, isolated populations, especially those at the edge of their distribution range, because they are vulnerable to stochastic processes if genetic diversity is low and the isolation level is high, and because such populations provide insight into the consequences of population declines in a broader conservation context. The harbour seal (Phoca vitulina) population in Svalbard is the world's northernmost P. vitulina population. Nothing is known about the genetic diversity, distinctiveness, or origin of this small, marginalized mammalian population. Thus, the present study investigated its genetic status in the context of nearby P. vitulina in Iceland, south-east Greenland, and northern Norway: this species is depleted/threatened in all of these regions. A total of 174 samples distributed between the four locations were analysed using 15 polymorphic microsatellites and variation in the displacement loop region (D-loop). Each of the four locations was a genetically distinct population. The Svalbard population was highly genetically distinct, had reduced genetic diversity, received limited gene flow, had a rather low effective population size, and showed an indication of having experienced a bottleneck resulting from a recent population decline. The significant heterozygote excess observed in the Svalbard sample might be attributed to the low effective population size, which could initiate future population inbreeding effects. This phenomenon has not been reported earlier from other P. vitulina populations, but if the Svalbard population is experiencing inbreeding, this could reduce its resilience to climate change, disease outbreaks, or other perturbations. © 2011 The Linnean Society of London, Biological Journal of the Linnean Society, 2011, 102, 420–439.