A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418718



Internal ID197878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31667799..31667850hg38UCSC Ensembl
chr20:30255602..30255653hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731920
Samples
Known GenesBCL2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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