A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215981



Internal ID22362128
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9101n152
Supporting Variantsnssv14341013, nssv14341010, nssv14341009, nssv14341016, nssv14341012, nssv14341015, nssv14341011, nssv14341014, nssv14341017
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOXL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215981
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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