A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496936



Internal ID274000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71141784..71146463hg38UCSC Ensembl
chr14:71608501..71613180hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384680
hg194680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696461
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496936
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