A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684216



Internal ID107882
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 StatusS
Merged Variantsnsv5497758
Supporting Variants
Samples
Known GenesNDUFA12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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