A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239887



Internal ID21687396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73701438..73701438hg38UCSC Ensembl
chr13:74275575..74275575hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716368
Supporting Variants
Samples
Known GenesKLF12
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)nssv17239887
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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