A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505111



Internal ID281894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124864629..124864793hg38UCSC Ensembl
chr12:125349175..125349339hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685113
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505111
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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