A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926064



Internal ID18117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222960119..222963216hg38UCSC Ensembl
chr2:223824837..223827934hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383098
hg193098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437213
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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