A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497758



Internal ID274782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94983167..94990333hg38UCSC Ensembl
chr12:95376943..95384109hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387167
hg197167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684216
Samples
Known GenesNDUFA12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497758
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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