A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381484



Internal ID22314919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640322..9643455hg38UCSC Ensembl
chr8:9497832..9500965hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383134
hg193134
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178995
Supporting Variants
SamplesNA19240
Known GenesTNKS
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381484
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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