A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700487



Internal ID15090453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77872220..77882175hg38UCSC Ensembl
Innerchr11:77583266..77593221hg19UCSC Ensembl
Innerchr11:77260914..77270869hg18UCSC Ensembl
Innerchr11:77260914..77270869hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389956
hg199956
hg189956
hg179956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524537
Supporting Variants
Samples
Known GenesAAMDC, INTS4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700487
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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