A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594968



Internal ID16382377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102859765..102861806hg38UCSC Ensembl
Innerchr4:103780922..103782963hg19UCSC Ensembl
Innerchr4:104000022..104002052hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382042
hg192042
hg182031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9184n54
Supporting Variantsnssv1003632
Samples
Known GenesUBE2D3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594968
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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