A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504457



Internal ID281258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82636113..82644225hg38UCSC Ensembl
chr12:83029892..83038004hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg388113
hg198113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689581
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504457
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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