A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582172



Internal ID18533767
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 StatusS
Merged Variantsnsv1008817
Supporting Variants
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)nssv3582172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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