A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548011



Internal ID321799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116541836..116541877hg38UCSC Ensembl
chr12:116979641..116979682hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684697
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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