A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295428



Internal ID22388414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26593491..26593548hg38UCSC Ensembl
chr18:24173455..24173512hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3795n152
Supporting Variantsnssv14431880
SamplesHG00514
Known GenesKCTD1
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)nsv3295428
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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