A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008817



Internal ID18751348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86743283..86945592hg38UCSC Ensembl
Innerchr2:86970406..87172715hg19UCSC Ensembl
Innerchr2:86823917..87026226hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38202310
hg19202310
hg18202310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3886n100
Supporting Variantsnssv3582171, nssv3582172
Samples
Known GenesANAPC1P1, CD8A, CD8B, RGPD1, RGPD2, RMND5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008817
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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