A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502363



Internal ID279231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46943994..46945392hg38UCSC Ensembl
chr12:47337777..47339175hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056770
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer