A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440089



Internal ID218610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101296979..101299029hg38UCSC Ensembl
chr2:101913441..101915491hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917033
Samples
Known GenesRNF149
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440089
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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