A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245271



Internal ID21692780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97141140..97141140hg38UCSC Ensembl
chr7:96770452..96770452hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382626
hg192626
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720296
Supporting Variants
Samples
Known GenesACN9
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)nssv17245271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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