A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500020



Internal ID276969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31338976..31339306hg38UCSC Ensembl
chr14:31808182..31808512hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693535
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500020
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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