A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17186209



Internal ID21633718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123266563..123266563hg38UCSC Ensembl
chr8:124278803..124278803hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706929
Supporting Variants
Samples
Known GenesZHX1, ZHX1-C8ORF76
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)nssv17186209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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