A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022415



Internal ID18764949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7535423hg38UCSC Ensembl
Innerchr8:7250368..7392945hg19UCSC Ensembl
Innerchr8:7237778..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38142578
hg19142578
hg18142578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6928n100
Supporting Variantsnssv3755035, nssv3678994
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022415
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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