A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549457



Internal ID15990180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240682824..240932276hg38UCSC Ensembl
Innerchr1:240846124..241095576hg19UCSC Ensembl
Innerchr1:238912747..239162199hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38249453
hg19249453
hg18249453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739138
Samples
Known GenesRGS7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549457
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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