A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583601



Internal ID16371010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168942109..169036909hg38UCSC Ensembl
Innerchr2:169798619..169893419hg19UCSC Ensembl
Innerchr2:169506865..169601665hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3894801
hg1994801
hg1894801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925276
Samples
Known GenesABCB11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583601
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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