A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249132



Internal ID21696641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51716882..51716882hg38UCSC Ensembl
chr12:52110666..52110666hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720116
Supporting Variants
Samples
Known GenesSCN8A
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)nssv17249132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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