A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910040



Internal ID7470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13641478..13642835hg38UCSC Ensembl
chr2:13781603..13782960hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449370
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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