A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875382



Internal ID6282393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169794283..169818035hg19UCSC Ensembl
Outerchr2:169792484..169819824hg19UCSC Ensembl
Innerchr2:169502529..169526281hg18UCSC Ensembl
Outerchr2:169500730..169528070hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1583697
SamplesIS36600
Known GenesABCB11
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875382
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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