A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610051



Internal ID16050774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7385193..8287918hg38UCSC Ensembl
Innerchr8:7242715..8145440hg19UCSC Ensembl
Innerchr8:7230125..8182850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38902726
hg19902726
hg18952726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11914n54
Supporting Variantsnssv1105728
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610051
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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