A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380173



Internal ID22328779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75540258..75552793hg38UCSC Ensembl
chr13:76114394..76126929hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3812536
hg1912536
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201483
Supporting Variants
SamplesNA19240
Known GenesUCHL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14380173
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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