A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500744



Internal ID277670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93834005..93834076hg38UCSC Ensembl
chr14:94300351..94300422hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699135
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer