A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236995



Internal ID21684504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100847222..100847222hg38UCSC Ensembl
chr1:101312778..101312778hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730928
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)nssv17236995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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