A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198541



Internal ID22348248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44722121..44722225hg38UCSC Ensembl
chr18:42302086..42302190hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446686
SamplesHG00733
Known GenesSETBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198541
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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