A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341012



Internal ID22195117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23328001..23332850hg38UCSC Ensembl
chr8:23185514..23190363hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384850
hg194850
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215981
Supporting Variants
SamplesHG00731
Known GenesLOXL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341012
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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