A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078656



Internal ID21438059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131998879..131998879hg38UCSC Ensembl
chr12:132483424..132483424hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5663177
Supporting Variants
SamplesHG00731
Known GenesEP400
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078656
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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