A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139530



Internal ID338717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142483218..142483269hg38UCSC Ensembl
chr3:142202060..142202111hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938873
Samples
Known GenesATR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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