A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549373



Internal ID16336782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234478405..234479054hg38UCSC Ensembl
Innerchr1:234614151..234614800hg19UCSC Ensembl
Innerchr1:232680774..232681423hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38650
hg19650
hg18650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv858n54
Supporting Variantsnssv738149, nssv738151, nssv738150, nssv738152
Samples
Known GenesTARBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549373
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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