A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501906



Internal ID278792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31318680..31319398hg38UCSC Ensembl
chr14:31787886..31788604hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693533
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501906
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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