A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594144



Internal ID16381553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49536439..49657842hg38UCSC Ensembl
Innerchr4:49538456..49659859hg19UCSC Ensembl
Innerchr4:49233213..49354616hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38121404
hg19121404
hg18121404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv997618
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594144
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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