A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv738182



Internal ID15685452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235876577..236629706hg38UCSC Ensembl
Innerchr1:236039877..236793006hg19UCSC Ensembl
Innerchr1:234106500..234859629hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38753130
hg19753130
hg18753130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549394
Supporting Variants
Samples
Known GenesEDARADD, ERO1LB, GPR137B, HEATR1, LGALS8, LGALS8-AS1, LYST, NID1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv738182
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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