A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456065



Internal ID22250375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377943..45378021hg38UCSC Ensembl
chr13:45952078..45952156hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193115
Supporting Variants
SamplesHG00733
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)nssv14456065
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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