A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580968



Internal ID16021691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10783142..10793123hg38UCSC Ensembl
Innerchr2:10923268..10933249hg19UCSC Ensembl
Innerchr2:10840719..10850700hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389982
hg199982
hg189982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv903716
Samples
Known GenesATP6V1C2, PDIA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580968
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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