A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516679



Internal ID15443972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94604752..94626268hg38UCSC Ensembl
Innerchr8:95616980..95638496hg19UCSC Ensembl
Innerchr8:95686156..95707672hg18UCSC Ensembl
Innerchr8:95686156..95707672hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3821517
hg1921517
hg1821517
hg1721517
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670111, nssv694141, nssv682581
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516679
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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