A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697833



Internal ID121499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69388434..69422608hg38UCSC Ensembl
chr14:69855151..69889325hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3834175
hg1934175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494815
Supporting Variants
Samples
Known GenesERH, SLC39A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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