A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016597



Internal ID18759132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7513944..7873159hg38UCSC Ensembl
Innerchr8:7371466..7730681hg19UCSC Ensembl
Innerchr8:7358876..7768091hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38359216
hg19359216
hg18409216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6949n100
Supporting Variantsnssv3680510, nssv3753634, nssv3680511
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)nsv1016597
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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