A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947452



Internal ID22722958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77319170..77332333hg38UCSC Ensembl
chr14:77785513..77798676hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3813164
hg1913164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388454
Samples
Known GenesGSTZ1, POMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947452
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