A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546948



Internal ID320845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114828444..114828444hg38UCSC Ensembl
chr12:115266249..115266249hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684623
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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