A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662462



Internal ID15052428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17386478..17403164hg38UCSC Ensembl
Innerchr11:17408025..17424711hg19UCSC Ensembl
Innerchr11:17364601..17381287hg18UCSC Ensembl
Innerchr11:17364601..17381287hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3816687
hg1916687
hg1816687
hg1716687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517772
Supporting Variants
Samples
Known GenesABCC8, KCNJ11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662462
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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