A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6365416



Internal ID21022969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42668343..42699971hg38UCSC Ensembl
chr3:42709835..42741463hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3831629
hg1931629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208661
Samples
Known GenesHHATL, KLHL40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6365416
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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