A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581665



Internal ID16369074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43858127..43868871hg38UCSC Ensembl
Innerchr2:44085266..44096010hg19UCSC Ensembl
Innerchr2:43938770..43949514hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3810745
hg1910745
hg1810745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv907906
Samples
Known GenesABCG8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581665
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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