A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431783



Internal ID210550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4661708..4661708hg38UCSC Ensembl
chr12:4770874..4770874hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052745
Samples
Known GenesNDUFA9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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