A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500315



Internal ID277255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75849304..75894573hg38UCSC Ensembl
chr14:76315647..76360916hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3845270
hg1945270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697935
Samples
Known GenesTTLL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500315
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