A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406834



Internal ID22311671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75165338..75165445hg38UCSC Ensembl
chr18:72877293..72877400hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3293049
Supporting Variants
SamplesNA19240
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)nssv14406834
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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