A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114007



Internal ID21297273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179300721..179505191hg38UCSC Ensembl
Innerchr5:178727722..178932192hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38204471
hg19204471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1000n145
Supporting Variantsnssv14109155, nssv14108885
Samplessample182, sample256
Known GenesADAMTS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114007
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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