A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017513



Internal ID18760047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7896694..8008628hg38UCSC Ensembl
Innerchr8:7754216..7866150hg19UCSC Ensembl
Innerchr8:7791626..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38111935
hg19111935
hg18111935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6970n100
Supporting Variantsnssv3681183
Samples
Known GenesDEFB109P1B, DEFB4A, 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)nsv1017513
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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