A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548934



Internal ID16336343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199059549..199122011hg38UCSC Ensembl
Innerchr1:199028678..199091139hg19UCSC Ensembl
Innerchr1:197295301..197357762hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3862463
hg1962462
hg1862462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv768n54
Supporting Variantsnssv734455, nssv734450, nssv734451, nssv734454, nssv734452, nssv734453
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548934
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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