A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224458



Internal ID22367884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27251264..27251339hg38UCSC Ensembl
chr8:27108781..27108856hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9111n152
Supporting Variantsnssv14453611
SamplesHG00733
Known GenesSTMN4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224458
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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