A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591650



Internal ID16032373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128986168..129177231hg38UCSC Ensembl
Innerchr3:128705011..128896074hg19UCSC Ensembl
Innerchr3:130187701..130378764hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38191064
hg19191064
hg18191064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv973099
Samples
Known GenesCNBP, EFCC1, GP9, ISY1, ISY1-RAB43, KIAA1257, RAB43
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591650
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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