A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500351



Internal ID277289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116104257..116110307hg38UCSC Ensembl
chr12:116542062..116548112hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386051
hg196051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684673
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500351
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