A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699538



Internal ID123204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103594756..103594771hg38UCSC Ensembl
chr14:104061093..104061108hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559965
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699538
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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