A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667523



Internal ID15057489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36459737..36515878hg38UCSC Ensembl
Innerchr17:34815551..34871721hg19UCSC Ensembl
Innerchr17:31889664..31945834hg18UCSC Ensembl
Innerchr17:31889664..31945834hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3856142
hg1956171
hg1856171
hg1756171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516100
Supporting Variants
Samples
Known GenesMYO19, ZNHIT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv667523
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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