A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453670



Internal ID22248381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46326786..46326853hg38UCSC Ensembl
chr18:43906749..43906816hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3291893
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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