A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6375190



Internal ID21032743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53823983..53901628hg38UCSC Ensembl
chr3:53858010..53935655hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3877646
hg1977646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18210014
Samples
Known GenesACTR8, CHDH, IL17RB, SELK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6375190
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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