A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695398



Internal ID15432050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:17430198..17441418hg38UCSC Ensembl
Innerchr20:17410843..17422063hg19UCSC Ensembl
Innerchr20:17358843..17370063hg18UCSC Ensembl
Innerchr20:17358843..17370063hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3811221
hg1911221
hg1811221
hg1711221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517986
Supporting Variants
Samples
Known GenesPCSK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695398
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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