A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444683



Internal ID22240639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56739366..56739366hg38UCSC Ensembl
chr16:56773278..56773278hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557873
Supporting Variants
SamplesHG00733
Known GenesNUP93
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)nssv14444683
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