A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517995



Internal ID15445288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55058311..55060623hg38UCSC Ensembl
Innerchr1:55523984..55526296hg19UCSC Ensembl
Innerchr1:55296572..55298884hg18UCSC Ensembl
Innerchr1:55236005..55238317hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382313
hg192313
hg182313
hg172313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678581, nssv655142
Samples
Known GenesPCSK9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517995
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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