A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446457



Internal ID224779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84124701..84133387hg38UCSC Ensembl
chr2:84351825..84360511hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg388687
hg198687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915711
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446457
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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