A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723497



Internal ID21749818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158587603..158587603hg38UCSC Ensembl
chr2:159444115..159444115hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250628
Samples
Known GenesPKP4
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)nsv5723497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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