A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4005045



Internal ID22066676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123157393..123270144hg38UCSC Ensembl
Outerchr8:123155027..123278634hg38UCSC Ensembl
Innerchr8:124169633..124282384hg19UCSC Ensembl
Outerchr8:124167267..124290874hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38123608
hg19123608
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154388
Supporting Variants
Samples
Known GenesC8orf76, FAM83A, FAM83A-AS1, MIR4663, ZHX1, ZHX1-C8ORF76
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4005045
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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