A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243601



Internal ID21691110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172078240..172078240hg38UCSC Ensembl
chr1:172047380..172047380hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg383907
hg193907
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730304
Supporting Variants
Samples
Known GenesDNM3
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)nssv17243601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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