A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361825



Internal ID22587494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14521650..14534287hg38UCSC Ensembl
chr12:14674584..14687221hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3812638
hg1912638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920159
Supporting Variants
Samples
Known GenesPLBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361825
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