A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689971



Internal ID15426623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2633788..2675354hg38UCSC Ensembl
Innerchr17:2537082..2578648hg19UCSC Ensembl
Innerchr17:2483832..2525398hg18UCSC Ensembl
Innerchr17:2483832..2525398hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3841567
hg1941567
hg1841567
hg1741567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516756
Supporting Variants
Samples
Known GenesPAFAH1B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689971
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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