A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549456



Internal ID15990179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240682824..240804127hg38UCSC Ensembl
Innerchr1:240846124..240967427hg19UCSC Ensembl
Innerchr1:238912747..239034050hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38121304
hg19121304
hg18121304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174075
SamplesHGDP00950
Known GenesRGS7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549456
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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