A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938955



Internal ID22714342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35026758..35027570hg38UCSC Ensembl
chr14:35495964..35496776hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370651
Samples
Known GenesSRP54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938955
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