A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697589



Internal ID15087555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61389584..61415916hg38UCSC Ensembl
Innerchr11:61157056..61183388hg19UCSC Ensembl
Innerchr11:60913632..60939964hg18UCSC Ensembl
Innerchr11:60913632..60939964hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3826333
hg1926333
hg1826333
hg1726333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520751
Supporting Variants
Samples
Known GenesCPSF7, TMEM216
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697589
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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