A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206715



Internal ID21654224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164773542..164773542hg38UCSC Ensembl
chr1:164742779..164742779hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691651
Supporting Variants
Samples
Known GenesLOC100505795, PBX1
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)nssv17206715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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