A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952326



Internal ID22727642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51395307..51395360hg38UCSC Ensembl
chr20:50011844..50011897hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399222
Samples
Known GenesNFATC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952326
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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