A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244853



Internal ID21692362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902679..120902679hg38UCSC Ensembl
chr10:122662191..122662191hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg385594
hg195594
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725073
Supporting Variants
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)nssv17244853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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