A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251408



Internal ID21698917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116843601..116843601hg38UCSC Ensembl
chr7:116483655..116483655hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718330
Supporting Variants
Samples
Known Genes
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)nssv17251408
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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