A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246653



Internal ID21694162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56369959..56369959hg38UCSC Ensembl
chr1:56835631..56835631hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730494
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)nssv17246653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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