A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17176935



Internal ID21624444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34647590..34647590hg38UCSC Ensembl
chr5:34647695..34647695hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686720
Supporting Variants
Samples
Known Genes
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)nssv17176935
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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