A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240217



Internal ID21687726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57960611..57960611hg38UCSC Ensembl
chr1:58426283..58426283hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg382924
hg192924
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724118
Supporting Variants
Samples
Known GenesDAB1
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)nssv17240217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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