A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379510



Internal ID22328407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23328001..23332850hg38UCSC Ensembl
chr8:23185514..23190363hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218020
Supporting Variants
SamplesNA19240
Known GenesLOXL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379510
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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