A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453790



Internal ID22248486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38851633..38851850hg38UCSC Ensembl
chr13:39425770..39425987hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207995
Supporting Variants
SamplesHG00733
Known GenesFREM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453790
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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