A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233763



Internal ID21681272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162887737..162887737hg38UCSC Ensembl
chr5:162314743..162314743hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724756
Supporting Variants
Samples
Known Genes
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)nssv17233763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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