A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250541



Internal ID21698050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37269756..37269756hg38UCSC Ensembl
chr7:37309361..37309361hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727745
Supporting Variants
Samples
Known GenesELMO1
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)nssv17250541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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