A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572985



Internal ID16013708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505538..75547262hg38UCSC Ensembl
Innerchr16:75539436..75581160hg19UCSC Ensembl
Innerchr16:74096937..74138661hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3841725
hg1941725
hg1841725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5189n54
Supporting Variantsnssv859188, nssv859189
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572985
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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