A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572982



Internal ID16013705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505538..75540623hg38UCSC Ensembl
Innerchr16:75539436..75574521hg19UCSC Ensembl
Innerchr16:74096937..74132022hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3835086
hg1935086
hg1835086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5189n54
Supporting Variantsnssv859183
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572982
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer