A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435379



Internal ID22178445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192641104..192641405hg38UCSC Ensembl
chr3:192358893..192359194hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171751
Supporting Variants
SamplesHG00514
Known GenesFGF12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435379
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