A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915373



Internal ID10988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99840031..99840041hg38UCSC Ensembl
chr2:100456493..100456503hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538357
Supporting Variants
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006712


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