A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405848



Internal ID22294688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30820515..30821957hg38UCSC Ensembl
chr16:30831836..30833278hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215411
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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