A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385363



Internal ID22296563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121130552..121130552hg38UCSC Ensembl
chr11:121001261..121001261hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543900
Supporting Variants
SamplesNA19240
Known GenesTECTA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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