A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015817



Internal ID18758351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7513944..7880901hg38UCSC Ensembl
Innerchr8:7371466..7738423hg19UCSC Ensembl
Innerchr8:7358876..7775833hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38366958
hg19366958
hg18416958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6949n100
Supporting Variantsnssv3680512, nssv3753635
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015817
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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