A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594971



Internal ID16382380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102860806..102862202hg38UCSC Ensembl
Innerchr4:103781963..103783359hg19UCSC Ensembl
Innerchr4:104001052..104002448hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381397
hg191397
hg181397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9185n54
Supporting Variantsnssv1003636, nssv1003637
Samples
Known GenesUBE2D3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594971
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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