A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215803



Internal ID22362010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98825797..98825894hg38UCSC Ensembl
chr8:99838025..99838122hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9270n152
Supporting Variantsnssv14462270, nssv14379169
SamplesNA19240, HG00733
Known GenesSTK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215803
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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