A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178236



Internal ID21625745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124544861..124544861hg38UCSC Ensembl
chr5:123880554..123880554hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693600
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)nssv17178236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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