A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379169



Internal ID22317789
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 StatusS
Merged Variantsnsv3215803
Supporting Variants
SamplesNA19240
Known GenesSTK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379169
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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