A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696249



Internal ID119915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52801392..52801428hg38UCSC Ensembl
chr14:53268110..53268146hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558720
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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