A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548692



Internal ID16336101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194561784..194672045hg38UCSC Ensembl
Innerchr1:194530914..194641175hg19UCSC Ensembl
Innerchr1:192797537..192907798hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110262
hg19110262
hg18110262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724n54
Supporting Variantsnssv733894
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548692
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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