A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379654



Internal ID22292042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158701152..158701255hg38UCSC Ensembl
chr6:159122184..159122287hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284098
Supporting Variants
SamplesNA19240
Known GenesSYTL3
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)nssv14379654
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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