A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004771



Internal ID19093988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52527318..52585037hg38UCSC Ensembl
Innerchr2:52754456..52812175hg19UCSC Ensembl
Innerchr2:52607960..52665679hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3857720
hg1957720
hg1857720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3832n100
Supporting Variantsnssv3727694
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004771
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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