A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023762



Internal ID18766295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7974520hg38UCSC Ensembl
Innerchr8:7254279..7832042hg19UCSC Ensembl
Innerchr8:7241689..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38577764
hg19577764
hg18627764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3679655
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, 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)nsv1023762
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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