A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594020



Internal ID21542614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120306296..120307678hg38UCSC Ensembl
chr12:120744099..120745481hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381383
hg191383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077469
SamplesNA20847
Known GenesSIRT4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594020
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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