A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077903



Internal ID21415650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123389131..123389131hg38UCSC Ensembl
chr12:123873678..123873678hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650644
Supporting Variants
SamplesHG00731
Known GenesSETD8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077903
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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