A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508016



Internal ID284717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117826229..117843962hg38UCSC Ensembl
chr12:118264034..118281767hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3817734
hg1917734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684770
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508016
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