A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449875



Internal ID228100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47231005..47233428hg38UCSC Ensembl
chr2:47458144..47460567hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382424
hg192424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912943
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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