A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077342



Internal ID21466688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124912650..124912650hg38UCSC Ensembl
chr12:125397196..125397196hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647532
Supporting Variants
SamplesHG03065
Known GenesUBC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077342
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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