A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548484



Internal ID16335893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188913906..189120437hg38UCSC Ensembl
Innerchr1:188883037..189089568hg19UCSC Ensembl
Innerchr1:187149660..187356191hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38206532
hg19206532
hg18206532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv679n54
Supporting Variantsnssv732520
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548484
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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