A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001097



Internal ID16947363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18597100..18598429hg38UCSC Ensembl
Outerchr8:18454610..18455939hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957673
Supporting Variants
SamplesBILGI_BIOE
Known GenesPSD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001097
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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