A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720333



Internal ID21746654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119562420..119562420hg38UCSC Ensembl
chr4:120483575..120483575hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244625, nssv17239983
Samples
Known GenesPDE5A
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)nsv5720333
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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