A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910060



Internal ID7484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13840749..13842117hg38UCSC Ensembl
chr2:13980874..13982242hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438935
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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