A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694001



Internal ID117667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30646299..30646401hg38UCSC Ensembl
chr14:31115505..31115607hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495133
Supporting Variants
Samples
Known GenesSCFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01563


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