A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220997



Internal ID21668506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124242811..124242811hg38UCSC Ensembl
chr9:127005090..127005090hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696137
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)nssv17220997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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