A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541026



Internal ID315681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88793062..88793065hg38UCSC Ensembl
chr12:89186839..89186842hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684032
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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