A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464894



Internal ID22217263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:19939751..19939851hg38UCSC Ensembl
chr6:19939982..19940082hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287416
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)nssv14464894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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