A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594966



Internal ID21543568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112541570..112541853hg38UCSC Ensembl
chr12:112979374..112979657hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077209
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594966
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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