A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452139



Internal ID22247087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192152632..192152632hg38UCSC Ensembl
chr3:191870421..191870421hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536093
Supporting Variants
SamplesHG00733
Known GenesFGF12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452139
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