A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548529



Internal ID16335938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189670050..189709101hg38UCSC Ensembl
Innerchr1:189639180..189678231hg19UCSC Ensembl
Innerchr1:187905803..187944854hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3839052
hg1939052
hg1839052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv689n54
Supporting Variantsnssv732552
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548529
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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