A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553483



Internal ID326727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92287558..92287560hg38UCSC Ensembl
chr12:92681334..92681336hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684096
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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