A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034117



Internal ID18776651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7902059hg38UCSC Ensembl
Innerchr8:7214599..7759581hg19UCSC Ensembl
Innerchr8:7202009..7796991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38544983
hg19544983
hg18594983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3754159, nssv3678572
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034117
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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