A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105750



Internal ID15612250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7399124..8146462hg38UCSC Ensembl
Innerchr8:7256646..8003984hg19UCSC Ensembl
Innerchr8:7244056..8041394hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38747339
hg19747339
hg18797339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610062
Supporting Variants
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
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105750
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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