A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv958478



Internal ID16960666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19666910..19667022hg38UCSC Ensembl
Outerchr8:19524421..19524533hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001196
SamplesBILGI_BIOE
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv958478
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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