A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591914



Internal ID16032637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142103779..142353090hg38UCSC Ensembl
Innerchr3:141822621..142071932hg19UCSC Ensembl
Innerchr3:143305311..143554622hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38249312
hg19249312
hg18249312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8626n54
Supporting Variantsnssv975212, nssv975213, nssv975210, nssv975211, nssv975209, nssv1152547, nssv1152546
Samples1798860102_A, 1780854038_A
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591914
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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