A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730403



Internal ID21756724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62140671..62140671hg38UCSC Ensembl
chr20:60715727..60715727hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238035
Samples
Known GenesPSMA7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5730403
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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