A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447430



Internal ID225734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43072778..43073495hg38UCSC Ensembl
chr2:43299916..43300633hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911635
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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