A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171063



Internal ID22331082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518803..197518856hg38UCSC Ensembl
chr3:197245674..197245727hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423626
SamplesHG00514
Known GenesBDH1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171063
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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