A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519636



Internal ID15100243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27778100..27831788hg38UCSC Ensembl
Innerchr8:27635617..27689305hg19UCSC Ensembl
Innerchr8:27691536..27745224hg18UCSC Ensembl
Innerchr8:27691536..27745224hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3853689
hg1953689
hg1853689
hg1753689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696963
Samples
Known GenesESCO2, PBK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519636
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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