A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658489



Internal ID15048455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17382092..17403164hg38UCSC Ensembl
Innerchr11:17403639..17424711hg19UCSC Ensembl
Innerchr11:17360215..17381287hg18UCSC Ensembl
Innerchr11:17360215..17381287hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821073
hg1921073
hg1821073
hg1721073
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)nssv658489
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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