A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000731



Internal ID18743262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10618531..10803756hg38UCSC Ensembl
Innerchr2:10758657..10943882hg19UCSC Ensembl
Innerchr2:10676108..10861333hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38185226
hg19185226
hg18185226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576961
Samples
Known GenesATP6V1C2, NOL10, PDIA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000731
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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