A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346782



Internal ID21004335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39433701..39439800hg38UCSC Ensembl
chr2:39660842..39666941hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206944
Samples
Known GenesLOC728730, MAP4K3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346782
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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