A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677479



Internal ID15067445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53141541..53183397hg38UCSC Ensembl
Innerchr3:53175557..53217413hg19UCSC Ensembl
Innerchr3:53150597..53192453hg18UCSC Ensembl
Innerchr3:53150597..53192453hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3841857
hg1941857
hg1841857
hg1741857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517233
Supporting Variants
Samples
Known GenesPRKCD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv677479
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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