A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952410



Internal ID22727725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36902349..36902904hg38UCSC Ensembl
chr20:35530752..35531307hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406678
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952410
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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