A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548937



Internal ID16336346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199059549..199176429hg38UCSC Ensembl
Innerchr1:199028678..199145557hg19UCSC Ensembl
Innerchr1:197295301..197412180hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38116881
hg19116880
hg18116880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734460
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548937
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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