A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923818



Internal ID16639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217280864..217282097hg38UCSC Ensembl
chr2:218145587..218146820hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450699
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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