A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912493



Internal ID9081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38780512..38780801hg38UCSC Ensembl
chr2:39007654..39007943hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435630
Supporting Variants
Samples
Known GenesGEMIN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912493
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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