A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139928



Internal ID339118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3448690..3448807hg38UCSC Ensembl
chr2:3452461..3452578hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909253
Samples
Known GenesTRAPPC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139928
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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