A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211446



Internal ID22359006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:626857..627014hg38UCSC Ensembl
chr18:626857..627014hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3731n152
Supporting Variantsnssv14431703
SamplesHG00514
Known GenesCLUL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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