A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248452



Internal ID21695961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42455223..42455223hg38UCSC Ensembl
chr20:41083863..41083863hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717837
Supporting Variants
Samples
Known GenesPTPRT
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)nssv17248452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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