A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398317



Internal ID22307826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518786..197518838hg38UCSC Ensembl
chr3:197245657..197245709hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187931
Supporting Variants
SamplesNA19240
Known GenesBDH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14398317
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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