A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917065



Internal ID12118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102994540..102994663hg38UCSC Ensembl
chr2:103610998..103611121hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439115
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00562


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