A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243604



Internal ID21691113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47887389..47887389hg38UCSC Ensembl
chr12:48281172..48281172hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720376
Supporting Variants
Samples
Known GenesVDR
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)nssv17243604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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