A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549460



Internal ID15990183
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 StatusM
Merged Variants
Supporting Variantsnssv739142
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)nsv549460
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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