A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390192



Internal ID22303152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:29188610..29188737hg38UCSC Ensembl
chr9:29188608..29188735hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3274517
Supporting Variants
SamplesNA19240
Known GenesLINGO2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390192
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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