A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375858



Internal ID22330002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117512351..117515450hg38UCSC Ensembl
chr11:117383066..117386165hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221598
Supporting Variants
SamplesNA19240
Known GenesDSCAML1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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