A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548498



Internal ID16335907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189118086..189522272hg38UCSC Ensembl
Innerchr1:189087217..189491402hg19UCSC Ensembl
Innerchr1:187353840..187758025hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38404187
hg19404186
hg18404186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732530
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548498
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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