A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139470



Internal ID338656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122477998..122478558hg38UCSC Ensembl
chr3:122196845..122197405hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939494
Samples
Known GenesKPNA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139470
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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