A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548935



Internal ID16336344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199059549..199122571hg38UCSC Ensembl
Innerchr1:199028678..199091699hg19UCSC Ensembl
Innerchr1:197295301..197358322hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863023
hg1963022
hg1863022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv768n54
Supporting Variantsnssv734458, nssv734457, nssv734456
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548935
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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