A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392228



Internal ID22302434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103001940..103002286hg38UCSC Ensembl
chr8:104014168..104014514hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197257
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392228
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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