A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016524



Internal ID18759059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7890165hg38UCSC Ensembl
Innerchr8:7633066..7747687hg19UCSC Ensembl
Innerchr8:7670476..7785097hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38114622
hg19114622
hg18114622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6959n100
Supporting Variantsnssv3680803, nssv3753705
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1016524
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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