A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682709



Internal ID15072675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53141541..53258074hg38UCSC Ensembl
Innerchr3:53175557..53292090hg19UCSC Ensembl
Innerchr3:53150597..53267130hg18UCSC Ensembl
Innerchr3:53150597..53267130hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38116534
hg19116534
hg18116534
hg17116534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517233
Supporting Variants
Samples
Known GenesPRKCD, TKT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682709
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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