A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245983



Internal ID21693492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:153816720..153816720hg38UCSC Ensembl
chr7:153513805..153513805hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg381930
hg191930
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720185
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)nssv17245983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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