A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206758



Internal ID21654267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172010841..172010841hg38UCSC Ensembl
chr1:171979981..171979981hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678174
Supporting Variants
Samples
Known GenesDNM3
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)nssv17206758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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