A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212057



Internal ID22359419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95079877..95080118hg38UCSC Ensembl
chr8:96092105..96092346hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9258n152
Supporting Variantsnssv14438538
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212057
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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