A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178995



Internal ID22335307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640322..9643455hg38UCSC Ensembl
chr8:9497832..9500965hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383134
hg193134
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381484
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)nsv3178995
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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