A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015184



Internal ID18757719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433385..7535423hg38UCSC Ensembl
Innerchr8:7290907..7392945hg19UCSC Ensembl
Innerchr8:7278317..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38102039
hg19102039
hg18102039
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680174, nssv3680175, nssv3756479
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015184
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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