A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715340



Internal ID21741661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178025123..178025123hg38UCSC Ensembl
chr1:177994258..177994258hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382615
hg192615
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250424, nssv17236695
Samples
Known GenesLOC730102
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)nsv5715340
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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