A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17174897



Internal ID21622406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:90743622..90743622hg38UCSC Ensembl
chr1:91209179..91209179hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684465
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)nssv17174897
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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