A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249125



Internal ID21696634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109582320..109582320hg38UCSC Ensembl
chr12:110020125..110020125hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383516
hg193516
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726632
Supporting Variants
Samples
Known GenesMVK
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)nssv17249125
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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