A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212972



Internal ID21660481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6397519..6397519hg38UCSC Ensembl
chr5:6397632..6397632hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686847
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)nssv17212972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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