A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052748



Internal ID103011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4681802..4681853hg38UCSC Ensembl
chr12:4790968..4791019hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426021
Supporting Variants
Samples
Known GenesNDUFA9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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