A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572950



Internal ID16360359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71954829..71986424hg38UCSC Ensembl
Innerchr16:71988728..72020323hg19UCSC Ensembl
Innerchr16:70546229..70577824hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3831596
hg1931596
hg1831596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv859123
Samples
Known GenesPKD1L3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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