A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937649



Internal ID22713020
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 StatusM
Merged Variants
Supporting Variantsnssv17363424
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937649
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