A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv671519



Internal ID15061485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39661229..39678288hg38UCSC Ensembl
Innerchr17:37817482..37834541hg19UCSC Ensembl
Innerchr17:35071008..35088067hg18UCSC Ensembl
Innerchr17:35071008..35088067hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3817060
hg1917060
hg1817060
hg1717060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516757
Supporting Variants
Samples
Known GenesPGAP3, PNMT, STARD3, TCAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv671519
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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