A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548086



Internal ID16335495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163951560..164097930hg38UCSC Ensembl
Innerchr1:163920797..164067167hg19UCSC Ensembl
Innerchr1:162187421..162333791hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38146371
hg19146371
hg18146371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv609n54
Supporting Variantsnssv727708
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548086
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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