A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728322



Internal ID21754643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177191484..177191484hg38UCSC Ensembl
chr1:177160620..177160620hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245254
Samples
Known GenesBRINP2
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)nsv5728322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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