A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694239



Internal ID15084205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53798876..53848636hg38UCSC Ensembl
Innerchr3:53832903..53882663hg19UCSC Ensembl
Innerchr3:53807943..53857703hg18UCSC Ensembl
Innerchr3:53807943..53857703hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3849761
hg1949761
hg1849761
hg1749761
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518466
Supporting Variants
Samples
Known GenesCACNA1D, CHDH, IL17RB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694239
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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