A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548690



Internal ID16336099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194527460..194637852hg38UCSC Ensembl
Innerchr1:194496590..194606982hg19UCSC Ensembl
Innerchr1:192763213..192873605hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110393
hg19110393
hg18110393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733893
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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