A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918519



Internal ID13116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99449806..99449839hg38UCSC Ensembl
chr2:100066268..100066301hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549854
Supporting Variants
Samples
Known GenesREV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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