A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677795



Internal ID18629390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..7996982hg38UCSC Ensembl
Innerchr8:7170477..7854504hg19UCSC Ensembl
Innerchr8:7157887..7891914hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38684028
hg19684028
hg18734028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024892
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677795
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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