A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558930



Internal ID22427735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172572044..172572044hg38UCSC Ensembl
chr1:172541184..172541184hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440696
SamplesHG00733
Known GenesSUCO
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558930
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer