A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190885



Internal ID21638394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360978..47360978hg38UCSC Ensembl
chr12:47754761..47754761hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701873
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)nssv17190885
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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