A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508740



Internal ID285424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20932167..20958267hg38UCSC Ensembl
chr14:21400326..21426426hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3826101
hg1926101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695317
Samples
Known GenesRNASE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508740
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