A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028307



Internal ID18770838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..7982308hg38UCSC Ensembl
Innerchr8:7752036..7839830hg19UCSC Ensembl
Innerchr8:7789446..7877240hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3887795
hg1987795
hg1887795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6970n100
Supporting Variantsnssv3681163, nssv3681162, nssv3681164
Samples
Known GenesDEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028307
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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