A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033983



Internal ID18776517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7919637hg38UCSC Ensembl
Innerchr8:7633066..7777159hg19UCSC Ensembl
Innerchr8:7670476..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38144094
hg19144094
hg18144094
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6961n100
Supporting Variantsnssv3680808, nssv3680812, nssv3680810, nssv3680811, nssv3680817, nssv3680818, nssv3680809, nssv3680814, nssv3680813, nssv3680815, nssv3680816
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1033983
Frequency
Sample Size29084
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer