A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607726



Internal ID16048449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87411313..87510000hg38UCSC Ensembl
Innerchr7:87040629..87139316hg19UCSC Ensembl
Innerchr7:86878565..86977252hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3898688
hg1998688
hg1898688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155354
SamplesHGDP00807
Known GenesABCB1, ABCB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607726
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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