A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139242



Internal ID338426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46544015..46544067hg38UCSC Ensembl
chr3:46585505..46585557hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933312
Samples
Known GenesLRRC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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