A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591916



Internal ID16032639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142116873..142366468hg38UCSC Ensembl
Innerchr3:141835715..142085310hg19UCSC Ensembl
Innerchr3:143318405..143568000hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38249596
hg19249596
hg18249596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8626n54
Supporting Variantsnssv975215
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591916
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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