A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv873981



Internal ID6280992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44067169..44073881hg19UCSC Ensembl
Outerchr2:44065090..44079004hg19UCSC Ensembl
Innerchr2:43920673..43927385hg18UCSC Ensembl
Outerchr2:43918594..43932508hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1561312, nssv1571621
SamplesIS32761, MS24932
Known GenesABCG5, ABCG8
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv873981
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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