A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549200



Internal ID16336609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216456074..216476325hg38UCSC Ensembl
Innerchr1:216629416..216649667hg19UCSC Ensembl
Innerchr1:214696039..214716290hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3820252
hg1920252
hg1820252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv820n54
Supporting Variantsnssv736963
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549200
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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