A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363424



Internal ID22589093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53465495..53465545hg38UCSC Ensembl
chr12:53859279..53859329hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937649
Supporting Variants
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363424
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