A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249794



Internal ID21697303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:31361078..31361078hg38UCSC Ensembl
chr10:31650007..31650007hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719203
Supporting Variants
Samples
Known GenesZEB1
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)nssv17249794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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