A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719035



Internal ID18670630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75500380..75542099hg38UCSC Ensembl
Innerchr16:75534278..75575997hg19UCSC Ensembl
Innerchr16:74091779..74133498hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3841720
hg1941720
hg1841720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060637
Supporting Variants
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719035
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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