A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513782



Internal ID290296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94845578..94856667hg38UCSC Ensembl
chr12:95239354..95250443hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3811090
hg1911090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684200
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513782
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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