A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560800



Internal ID333798
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 StatusM
Merged Variants
Supporting Variantsnssv17696430
Samples
Known GenesEXOC5
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560800
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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