A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693564



Internal ID117230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31798381..31798424hg38UCSC Ensembl
chr14:32267587..32267630hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414256
Supporting Variants
Samples
Known GenesNUBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003278


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