A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544569



Internal ID318701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218407124..218407175hg38UCSC Ensembl
chr2:219271847..219271898hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg388417
hg198417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928218
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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