A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243149



Internal ID21690658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107926038..107926038hg38UCSC Ensembl
chr7:107566483..107566483hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg384017
hg194017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723270
Supporting Variants
Samples
Known GenesLAMB1
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)nssv17243149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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