A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239177



Internal ID21686686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59915947..59915947hg38UCSC Ensembl
chr1:60381619..60381619hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730143
Supporting Variants
Samples
Known GenesCYP2J2
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)nssv17239177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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