A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022270



Internal ID18764804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7982308hg38UCSC Ensembl
Innerchr8:7250368..7839830hg19UCSC Ensembl
Innerchr8:7237778..7877240hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38589463
hg19589463
hg18639463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3679550, nssv3679547, nssv3679549, nssv3679551, nssv3679548
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, 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)nsv1022270
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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