A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501413



Internal ID278312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26327850..26330008hg38UCSC Ensembl
chr12:26480783..26482941hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055444
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501413
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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