A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196766



Internal ID21644275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30971258..30971258hg38UCSC Ensembl
chr1:31444105..31444105hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685860
Supporting Variants
Samples
Known GenesPUM1
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)nssv17196766
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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