A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421727



Internal ID200789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88798658..88798709hg38UCSC Ensembl
chr12:89192435..89192486hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689897
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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