A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572984



Internal ID16013707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505538..75545335hg38UCSC Ensembl
Innerchr16:75539436..75579233hg19UCSC Ensembl
Innerchr16:74096937..74136734hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3839798
hg1939798
hg1839798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5189n54
Supporting Variantsnssv859186, nssv859187
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572984
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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