A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548085



Internal ID16335494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163951560..164088838hg38UCSC Ensembl
Innerchr1:163920797..164058075hg19UCSC Ensembl
Innerchr1:162187421..162324699hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38137279
hg19137279
hg18137279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv609n54
Supporting Variantsnssv727707
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548085
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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