A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724118



Internal ID21750439
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 StatusM
Merged Variants
Supporting Variantsnssv17240217, nssv17246198
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)nsv5724118
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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