A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597879



Internal ID21546499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125114662..125114736hg38UCSC Ensembl
chr12:125599208..125599282hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077348
SamplesHG00513
Known GenesAACS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597879
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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