A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250424



Internal ID21697933
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 StatusS
Merged Variantsnsv5715340
Supporting Variants
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)nssv17250424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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