A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936662



Internal ID22712019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34962422..35000319hg38UCSC Ensembl
chr14:35431628..35469525hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3837898
hg1937898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383622
Samples
Known GenesSRP54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936662
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