A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446423



Internal ID224746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38353926..38357111hg38UCSC Ensembl
chr2:38581068..38584253hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg383186
hg193186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911883
Samples
Known GenesATL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446423
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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