A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972041



Internal ID22746976
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 StatusM
Merged Variants
Supporting Variantsnssv17361359
Samples
Known GenesSETD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972041
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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