A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670648



Internal ID15060614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39625596..39674782hg38UCSC Ensembl
Innerchr17:37781849..37831035hg19UCSC Ensembl
Innerchr17:35035375..35084561hg18UCSC Ensembl
Innerchr17:35035375..35084561hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3849187
hg1949187
hg1849187
hg1749187
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516757
Supporting Variants
Samples
Known GenesPGAP3, PNMT, PPP1R1B, STARD3, TCAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670648
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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