A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245478



Internal ID21692987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31314428..31314428hg38UCSC Ensembl
chr5:31314535..31314535hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724525
Supporting Variants
Samples
Known GenesCDH6
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)nssv17245478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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