A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694812



Internal ID118478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48255637..48263175hg38UCSC Ensembl
chr14:48724840..48732378hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387539
hg197539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496036
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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