A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548582



Internal ID16335991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191332001..191459351hg38UCSC Ensembl
Innerchr1:191301131..191428481hg19UCSC Ensembl
Innerchr1:189567754..189695104hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38127351
hg19127351
hg18127351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv701n54
Supporting Variantsnssv732596
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548582
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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