A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249574



Internal ID21697083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60151169..60151169hg38UCSC Ensembl
chr14:60617887..60617887hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721491
Supporting Variants
Samples
Known GenesDHRS7
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)nssv17249574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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