A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467167



Internal ID22219359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95080519..95080597hg38UCSC Ensembl
chr8:96092747..96092825hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216249
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14467167
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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