A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713798



Internal ID21740119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18595748..18595748hg38UCSC Ensembl
chr19:18706558..18706558hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213896, nssv17199807
Samples
Known GenesCRLF1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5713798
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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