A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684924



Internal ID108590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120673212..120673263hg38UCSC Ensembl
chr12:121111015..121111066hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419963
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684924
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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