A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182779



Internal ID21630288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48927006..48927006hg38UCSC Ensembl
chr7:48966602..48966602hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688878
Supporting Variants
Samples
Known GenesCDC14C
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)nssv17182779
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