A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572940



Internal ID16360349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70159711..70162281hg38UCSC Ensembl
Innerchr16:70193614..70196184hg19UCSC Ensembl
Innerchr16:68751115..68753685hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382571
hg192571
hg182571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5183n54
Supporting Variantsnssv859113, nssv859112
Samples
Known GenesPDPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572940
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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