A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508625



Internal ID285312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93903395..93911884hg38UCSC Ensembl
chr14:94369741..94378230hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg388490
hg198490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699141
Samples
Known GenesFAM181A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508625
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