A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023916



Internal ID18766449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8160504hg38UCSC Ensembl
Innerchr8:7250368..8018026hg19UCSC Ensembl
Innerchr8:7237778..8055436hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38767659
hg19767659
hg18817659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6915n100
Supporting Variantsnssv3679569, nssv3755221, nssv3679570
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)nsv1023916
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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