A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516638



Internal ID15097245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78013628..78052743hg38UCSC Ensembl
Innerchr11:77724674..77763789hg19UCSC Ensembl
Innerchr11:77402322..77441437hg18UCSC Ensembl
Innerchr11:77402322..77441437hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3839116
hg1939116
hg1839116
hg1739116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv670710, nssv669789
Samples
Known GenesKCTD14, NDUFC2-KCTD14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516638
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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