A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501620



Internal ID278514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94979586..94985813hg38UCSC Ensembl
chr12:95373362..95379589hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386228
hg196228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684214
Samples
Known GenesNDUFA12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501620
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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