A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699681



Internal ID15436333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66307675..66326565hg38UCSC Ensembl
Innerchr17:64303793..64322683hg19UCSC Ensembl
Innerchr17:61734255..61753145hg18UCSC Ensembl
Innerchr17:61734255..61753145hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3818891
hg1918891
hg1818891
hg1718891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523847
Supporting Variants
Samples
Known GenesPRKCA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699681
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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