A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535519



Internal ID311144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54868447..54868483hg38UCSC Ensembl
chr14:55335165..55335201hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696306
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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