A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243929



Internal ID21691438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:181082037..181082037hg38UCSC Ensembl
chr4:182003190..182003190hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381299
hg191299
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721337
Supporting Variants
Samples
Known GenesLINC00290
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)nssv17243929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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