A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516136



Internal ID15443429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55468250..55490347hg38UCSC Ensembl
Innerchr8:56380810..56402907hg19UCSC Ensembl
Innerchr8:56543364..56565461hg18UCSC Ensembl
Innerchr8:56543364..56565461hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3822098
hg1922098
hg1822098
hg1722098
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700712, nssv689411, nssv705842, nssv663314, nssv680544, nssv687467, nssv678857, nssv681425, nssv666443
Samples
Known GenesXKR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516136
Frequency
Sample Size2026
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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