A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693541



Internal ID117207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31393278..31394554hg38UCSC Ensembl
chr14:31862484..31863760hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501386
Supporting Variants
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693541
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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