A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206162



Internal ID21653671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85659541..85659541hg38UCSC Ensembl
chr1:86125224..86125224hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689257
Supporting Variants
Samples
Known GenesZNHIT6
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)nssv17206162
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer