A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466547



Internal ID22233299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112275904..112319297hg38UCSC Ensembl
chr13:112930218..112973611hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3843394
hg1943394
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209000
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)nssv14466547
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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