A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548082



Internal ID16335491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163448959..163872906hg38UCSC Ensembl
Innerchr1:163418749..163842143hg19UCSC Ensembl
Innerchr1:161685373..162108767hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38423948
hg19423395
hg18423395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727703
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548082
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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