A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444349



Internal ID22240330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48586409..48586674hg38UCSC Ensembl
chr13:49160545..49160810hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201776
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444349
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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