A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250585



Internal ID21698094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:156502687..156502687hg38UCSC Ensembl
chr6:156823821..156823821hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730627
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)nssv17250585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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