A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246742



Internal ID21694251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225671775..225671775hg38UCSC Ensembl
chr1:225859477..225859477hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728305
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17246742
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