A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754161



Internal ID18705756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7914028hg38UCSC Ensembl
Innerchr8:7214599..7771550hg19UCSC Ensembl
Innerchr8:7202009..7808960hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38556952
hg19556952
hg18606952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028415
Supporting Variants
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)nssv3754161
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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