A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203588



Internal ID21651097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6874693..6874693hg38UCSC Ensembl
chr1:6934753..6934753hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674874
Supporting Variants
Samples
Known GenesCAMTA1
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)nssv17203588
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