A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6369471



Internal ID21027024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12525621..12723779hg38UCSC Ensembl
chr3:12567120..12765278hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38198159
hg19198159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208421
Samples
Known GenesC3orf83, MKRN2, RAF1, TSEN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6369471
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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