A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502315



Internal ID279185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57238158..57238228hg38UCSC Ensembl
chr12:57631941..57632011hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057823
Samples
Known GenesNDUFA4L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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