A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494208



Internal ID271360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104368773..104375354hg38UCSC Ensembl
chr12:104762551..104769132hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386582
hg196582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690525
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494208
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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