A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547980



Internal ID15988703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157260479..157390962hg38UCSC Ensembl
Innerchr1:157230269..157360752hg19UCSC Ensembl
Innerchr1:155496893..155627376hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38130484
hg19130484
hg18130484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv588n54
Supporting Variantsnssv1173209
Samples1780854341_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547980
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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