A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519987



Internal ID15100594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:10488725..10497430hg38UCSC Ensembl
Innerchr11:10510272..10518977hg19UCSC Ensembl
Innerchr11:10466848..10475553hg18UCSC Ensembl
Innerchr11:10466848..10475553hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388706
hg198706
hg188706
hg178706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697164
Samples
Known GenesAMPD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519987
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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