A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248796



Internal ID21696305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118346665..118346665hg38UCSC Ensembl
chr8:119358904..119358904hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716158
Supporting Variants
Samples
Known GenesSAMD12
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)nssv17248796
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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