A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516948



Internal ID15444241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71931822..71954829hg38UCSC Ensembl
Innerchr16:71965725..71988728hg19UCSC Ensembl
Innerchr16:70523226..70546229hg18UCSC Ensembl
Innerchr16:70523226..70546229hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3823008
hg1923004
hg1823004
hg1723004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662590, nssv653484
Samples
Known GenesPKD1L3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516948
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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