A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244500



Internal ID21692009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174820764..174820764hg38UCSC Ensembl
chr2:175685492..175685492hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722185
Supporting Variants
Samples
Known GenesCHN1
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)nssv17244500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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