A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725073



Internal ID21751394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902679..120902679hg38UCSC Ensembl
chr10:122662191..122662191hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243047, nssv17244853
Samples
Known GenesMIR5694, WDR11
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)nsv5725073
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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