A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506035



Internal ID282790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36949149..36952804hg38UCSC Ensembl
chr14:37418354..37422009hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg383656
hg193656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696911
Samples
Known GenesMIR4503, SLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506035
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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