A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450128



Internal ID228345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216623686..216632071hg38UCSC Ensembl
chr2:217488409..217496794hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg388386
hg198386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925906
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450128
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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