A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215465



Internal ID21662974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44555740..44555740hg38UCSC Ensembl
chr3:44597232..44597232hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674433
Supporting Variants
Samples
Known GenesZKSCAN7
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)nssv17215465
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