A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250011



Internal ID21697520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57350656..57350656hg38UCSC Ensembl
chr20:55925712..55925712hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722351
Supporting Variants
Samples
Known GenesMIR5095
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)nssv17250011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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