A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149721



Internal ID15530231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75505987..75554068hg38UCSC Ensembl
Innerchr16:75539885..75587966hg19UCSC Ensembl
Innerchr16:74097386..74145467hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3848082
hg1948082
hg1848082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv572987
Supporting Variants
SamplesHGDP00912
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149721
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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