A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527707



Internal ID15108314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55050331..55060623hg38UCSC Ensembl
Innerchr1:55516004..55526296hg19UCSC Ensembl
Innerchr1:55288592..55298884hg18UCSC Ensembl
Innerchr1:55228025..55238317hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3810293
hg1910293
hg1810293
hg1710293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704186
Samples
Known GenesPCSK9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527707
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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