A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495583



Internal ID272691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114624467..114624879hg38UCSC Ensembl
chr12:115062272..115062684hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684607
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495583
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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