A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516191



Internal ID15443484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67734155..67981346hg38UCSC Ensembl
Innerchr11:67501626..67748817hg19UCSC Ensembl
Innerchr11:67258202..67505393hg18UCSC Ensembl
Innerchr11:67258202..67505393hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38247192
hg19247192
hg18247192
hg17247192
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656038, nssv666690, nssv705404, nssv693204, nssv662961, nssv676632, nssv703410
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516191
Frequency
Sample Size2026
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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