A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5667117



Internal ID21615424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31689270..31689270hg38UCSC Ensembl
chr20:30277073..30277073hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116342
SamplesHG00731
Known GenesBCL2L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5667117
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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