A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382964



Internal ID22316951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83716751..83716810hg38UCSC Ensembl
chr8:84628986..84629045hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226900
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)nssv14382964
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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