A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382525



Internal ID22325289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119290386..119290979hg38UCSC Ensembl
chr11:119161096..119161689hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219365
Supporting Variants
SamplesNA19240
Known GenesCBL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14382525
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