A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040223



Internal ID21949566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61387891..61389115hg38UCSC Ensembl
chr14:61854609..61855833hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603249
Samples
Known GenesPRKCH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040223
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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