A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911294



Internal ID8298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26334093..26339098hg38UCSC Ensembl
chr2:26556961..26561966hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385006
hg195006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452206
Supporting Variants
Samples
Known GenesGPR113
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911294
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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