A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18017833



Internal ID20584873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32578735..32582498hg38UCSC Ensembl
chr14:33047941..33051704hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383764
hg193764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475932
Supporting Variants
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18017833
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00233


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