A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695206



Internal ID15085172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38614542..38637873hg38UCSC Ensembl
Innerchr3:38656033..38679364hg19UCSC Ensembl
Innerchr3:38631037..38654368hg18UCSC Ensembl
Innerchr3:38631037..38654368hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3823332
hg1923332
hg1823332
hg1723332
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517802
Supporting Variants
Samples
Known GenesSCN5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695206
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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