A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739142



Internal ID15686412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241331278..241669985hg38UCSC Ensembl
Innerchr1:241494578..241833287hg19UCSC Ensembl
Innerchr1:239561201..239899910hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38338708
hg19338710
hg18338710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549460
Supporting Variants
Samples
Known GenesCHML, FH, KMO, OPN3, RGS7, WDR64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv739142
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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