A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149719



Internal ID15530235
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 StatusS
Merged Variantsnsv572986
Supporting Variants
SamplesHGDP00913
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149719
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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