A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417616



Internal ID22153929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68955251..68959100hg38UCSC Ensembl
chr11:68722720..68726569hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215517
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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