A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754049



Internal ID18705644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7176261..7981315hg38UCSC Ensembl
Innerchr8:7033783..7838837hg19UCSC Ensembl
Innerchr8:7021193..7876247hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38805055
hg19805055
hg18855055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032768
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, 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)nssv3754049
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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