A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572991



Internal ID16013714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75514182..75549601hg38UCSC Ensembl
Innerchr16:75548080..75583499hg19UCSC Ensembl
Innerchr16:74105581..74141000hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3835420
hg1935420
hg1835420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5190n54
Supporting Variantsnssv1149722
SamplesHGDP00629
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572991
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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