A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440104



Internal ID22236686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235309632..235309632hg38UCSC Ensembl
chr1:235472947..235472947hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557586
Supporting Variants
SamplesHG00733
Known GenesARID4B
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)nssv14440104
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