A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448593



Internal ID22244028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63138404..63138504hg38UCSC Ensembl
chr18:60805637..60805737hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197326
Supporting Variants
SamplesHG00733
Known GenesBCL2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448593
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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