A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937794



Internal ID22713167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50152547..50156204hg38UCSC Ensembl
chr12:50546330..50549987hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383658
hg193658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355518
Samples
Known GenesCERS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937794
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