A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402946



Internal ID22293781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143042202..143042252hg38UCSC Ensembl
chr8:144123619..144123669hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209041
Supporting Variants
SamplesNA19240
Known GenesC8orf31
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402946
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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