A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025712



Internal ID18768244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7176261..7987051hg38UCSC Ensembl
Innerchr8:7033783..7844573hg19UCSC Ensembl
Innerchr8:7021193..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38810791
hg19810791
hg18860791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6882n100
Supporting Variantsnssv3677704
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)nsv1025712
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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