A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210130



Internal ID21657639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42848353..42848353hg38UCSC Ensembl
chr1:43314024..43314024hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675865
Supporting Variants
Samples
Known GenesZNF691
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)nssv17210130
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