A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397515



Internal ID22301127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:143031398..143031398hg38UCSC Ensembl
chr3:142750240..142750240hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540556
Supporting Variants
SamplesNA19240
Known GenesU2SURP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14397515
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