A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715619



Internal ID21741940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126964498..126964498hg38UCSC Ensembl
chr5:126300190..126300190hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237508
Samples
Known GenesMARCH3
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)nsv5715619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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