A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548659



Internal ID15989382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192580782..192656230hg38UCSC Ensembl
Innerchr1:192549912..192625360hg19UCSC Ensembl
Innerchr1:190816535..190891983hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3875449
hg1975449
hg1875449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173979
SamplesHGDP01348
Known GenesRGS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548659
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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