A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933165



Internal ID22708474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77828826..77830732hg38UCSC Ensembl
chr14:78295169..78297075hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381907
hg191907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382960
Samples
Known GenesADCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933165
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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