A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699361



Internal ID123027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77486651..77488639hg38UCSC Ensembl
chr14:77952994..77954982hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381989
hg191989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498929
Supporting Variants
Samples
Known GenesISM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699361
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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