A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503291



Internal ID280127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81663061..81706428hg38UCSC Ensembl
chr14:82129405..82172772hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3843368
hg1943368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699050
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503291
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