A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912512



Internal ID9092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39046289..39046340hg38UCSC Ensembl
chr2:39273430..39273481hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412910
Supporting Variants
Samples
Known GenesSOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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