A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519871



Internal ID15100478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135123823..135124444hg38UCSC Ensembl
Innerchr3:134842665..134843286hg19UCSC Ensembl
Innerchr3:136325355..136325976hg18UCSC Ensembl
Innerchr3:136325363..136325984hg17UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
hg17622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689042, nssv681126, nssv676993, nssv659203, nssv661416, nssv689766
Samples
Known GenesEPHB1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519871
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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