A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594484



Internal ID16381893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65720983..65773098hg38UCSC Ensembl
Innerchr4:66586701..66638816hg19UCSC Ensembl
Innerchr4:66269296..66321411hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3852116
hg1952116
hg1852116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9098n54
Supporting Variantsnssv1001749
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594484
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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