A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572986



Internal ID16013709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505987..75540526hg38UCSC Ensembl
Innerchr16:75539885..75574424hg19UCSC Ensembl
Innerchr16:74097386..74131925hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3834540
hg1934540
hg1834540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5189n54
Supporting Variantsnssv1149718, nssv1149720, nssv1149719, nssv1149717
SamplesHGDP00738, HGDP00913, HGDP00924, HGDP00017
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572986
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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