A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556404



Internal ID329542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35125948..35125985hg38UCSC Ensembl
chr20:33713751..33713788hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732144
Samples
Known GenesEDEM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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