A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684714



Internal ID108380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116819071..116819071hg38UCSC Ensembl
chr12:117256876..117256876hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549085
Supporting Variants
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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