A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548666



Internal ID16336075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194282691..194339072hg38UCSC Ensembl
Innerchr1:194251821..194308202hg19UCSC Ensembl
Innerchr1:192518444..192574825hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856382
hg1956382
hg1856382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173981
Samples1780854477_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548666
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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