A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520469



Internal ID15101076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12712863..12714150hg38UCSC Ensembl
Innerchr10:12754862..12756149hg19UCSC Ensembl
Innerchr10:12794868..12796155hg18UCSC Ensembl
Innerchr10:12794868..12796155hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381288
hg191288
hg181288
hg171288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671694, nssv674869
Samples
Known GenesCAMK1D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520469
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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