A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696430



Internal ID120096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57254467..57254468hg38UCSC Ensembl
chr14:57721185..57721186hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560800
Supporting Variants
Samples
Known GenesEXOC5
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696430
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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