A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503230



Internal ID280069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102272356..102272999hg38UCSC Ensembl
chr14:102738693..102739336hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698343
Samples
Known GenesMOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503230
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer