A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519547



Internal ID15100154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20667940..20680488hg38UCSC Ensembl
Innerchr11:20689486..20702034hg19UCSC Ensembl
Innerchr11:20646062..20658610hg18UCSC Ensembl
Innerchr11:20646062..20658610hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3812549
hg1912549
hg1812549
hg1712549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656821, nssv681402, nssv697904
Samples
Known GenesNELL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519547
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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