A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517081



Internal ID15444374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118860200..118874650hg38UCSC Ensembl
Innerchr8:119872439..119886889hg19UCSC Ensembl
Innerchr8:119941620..119956070hg18UCSC Ensembl
Innerchr8:119941620..119956070hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3814451
hg1914451
hg1814451
hg1714451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv653756, nssv696487, nssv662592
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517081
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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