A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139548



Internal ID338735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121849133..122607871hg38UCSC Ensembl
chr2:122606709..123365447hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38758739
hg19758739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919865
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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