A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206196



Internal ID21653705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115303098..115303098hg38UCSC Ensembl
chr1:115845719..115845719hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694180
Supporting Variants
Samples
Known GenesNGF
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17206196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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