A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508602



Internal ID285289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124676732..124676971hg38UCSC Ensembl
chr12:125161278..125161517hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690898
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508602
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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