A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572983



Internal ID16013706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505538..75541512hg38UCSC Ensembl
Innerchr16:75539436..75575410hg19UCSC Ensembl
Innerchr16:74096937..74132911hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3835975
hg1935975
hg1835975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5189n54
Supporting Variantsnssv859184, nssv859185
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572983
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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