A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197257



Internal ID22347160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103001940..103002286hg38UCSC Ensembl
chr8:104014168..104014514hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392228
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)nsv3197257
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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