A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663780



Internal ID15053746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30432017..30598335hg38UCSC Ensembl
Innerchr17:28759035..28925353hg19UCSC Ensembl
Innerchr17:25783161..25949479hg18UCSC Ensembl
Innerchr17:25783161..25949479hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38166319
hg19166319
hg18166319
hg17166319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515870
Supporting Variants
Samples
Known GenesCPD, GOSR1, LRRC37BP1, TBC1D29
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663780
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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