A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518638



Internal ID15099245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55044199..55060623hg38UCSC Ensembl
Innerchr1:55509872..55526296hg19UCSC Ensembl
Innerchr1:55282460..55298884hg18UCSC Ensembl
Innerchr1:55221893..55238317hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3816425
hg1916425
hg1816425
hg1716425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696087
Samples
Known GenesPCSK9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518638
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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