A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723210



Internal ID21749531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94923748..94923748hg38UCSC Ensembl
chr7:94553060..94553060hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385408
hg195408
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244788, nssv17247462
Samples
Known GenesPPP1R9A
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5723210
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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