A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028611



Internal ID18771142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8132501hg38UCSC Ensembl
Innerchr8:7250368..7990023hg19UCSC Ensembl
Innerchr8:7237778..8027433hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38739656
hg19739656
hg18789656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6915n100
Supporting Variantsnssv3679567
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, 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)nsv1028611
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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