A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3499223



Internal ID18740178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236442533..236618639hg38UCSC Ensembl
Innerchr1:236605833..236781939hg19UCSC Ensembl
Innerchr1:234672456..234848562hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38176107
hg19176107
hg18176107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998581
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3499223
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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