A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406778



Internal ID22322562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61894851..61895950hg38UCSC Ensembl
chr18:59562084..59563183hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220186
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406778
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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