A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503560



Internal ID280381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112959281..112961212hg38UCSC Ensembl
chr12:113397086..113399017hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690698
Samples
Known GenesOAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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