A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572992



Internal ID16360401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75522940..75538025hg38UCSC Ensembl
Innerchr16:75556838..75571923hg19UCSC Ensembl
Innerchr16:74114339..74129424hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3815086
hg1915086
hg1815086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5191n54
Supporting Variantsnssv859196
Samples
Known GenesCHST5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572992
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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