A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378427



Internal ID22293237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131633687..131633766hg38UCSC Ensembl
chr11:131503581..131503660hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211611
Supporting Variants
SamplesNA19240
Known GenesNTM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378427
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