A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247771



Internal ID21695280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62145079..62145079hg38UCSC Ensembl
chr12:62538860..62538860hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38622
hg19622
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715458
Supporting Variants
Samples
Known GenesFAM19A2
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)nssv17247771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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