A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401373



Internal ID22291482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377943..45378022hg38UCSC Ensembl
chr13:45952078..45952157hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201090
Supporting Variants
SamplesNA19240
Known GenesTPT1-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401373
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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