A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494112



Internal ID21151665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44924801..44926000hg38UCSC Ensembl
chr14:45394004..45395203hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18018729
Samples
Known GenesKLHL28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494112
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