A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480182



Internal ID21137735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21530214..21531575hg38UCSC Ensembl
chr14:21998348..21999709hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016025
Samples
Known GenesSALL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480182
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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