A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221081



Internal ID21668590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132785429..132785429hg38UCSC Ensembl
chr7:132470190..132470190hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705329
Supporting Variants
Samples
Known GenesCHCHD3
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)nssv17221081
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