A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022175



Internal ID18764709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7367834..7969388hg38UCSC Ensembl
Innerchr8:7225356..7826910hg19UCSC Ensembl
Innerchr8:7212766..7864320hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38601555
hg19601555
hg18651555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678899
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022175
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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