A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237586



Internal ID21685095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138738290..138738290hg38UCSC Ensembl
chr2:139495860..139495860hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725105
Supporting Variants
Samples
Known GenesNXPH2
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)nssv17237586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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