A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532505



Internal ID308425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35141011..35148567hg38UCSC Ensembl
chr20:33728814..33736370hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg387557
hg197557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732147
Samples
Known GenesEDEM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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