A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507074



Internal ID283803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92354246..92404577hg38UCSC Ensembl
chr12:92748022..92798353hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3850332
hg1950332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684103
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507074
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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