A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184421



Internal ID21631930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63032928..63032928hg38UCSC Ensembl
chr8:63945487..63945487hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711704
Supporting Variants
Samples
Known GenesGGH
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)nssv17184421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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