A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140391



Internal ID339584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176749324..176961324hg38UCSC Ensembl
chr5:176176325..176388325hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38212001
hg19212001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978184
Samples
Known GenesHK3, UIMC1, UNC5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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