A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215947



Internal ID21663456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207405070..207405070hg38UCSC Ensembl
chr2:208269794..208269794hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691053
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)nssv17215947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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