A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013232



Internal ID18755763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70849342..71049568hg38UCSC Ensembl
Innerchr2:71076472..71276698hg19UCSC Ensembl
Innerchr2:70929980..71130206hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38200227
hg19200227
hg18200227
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577288
Samples
Known GenesANKRD53, ATP6V1B1, OR7E91P, TEX261, VAX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013232
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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