A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448378



Internal ID226656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47257312..47289874hg38UCSC Ensembl
chr2:47484451..47517013hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3832563
hg1932563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912947
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448378
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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