A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504093



Internal ID280903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50751825..50753756hg38UCSC Ensembl
chr12:51145608..51147539hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058515
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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