A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019552



Internal ID18762087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7359328..7941317hg38UCSC Ensembl
Innerchr8:7216850..7798839hg19UCSC Ensembl
Innerchr8:7204260..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38581990
hg19581990
hg18631990
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3754990, nssv3678829, nssv3754987, nssv3754989, nssv3754991, nssv3754988
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019552
Frequency
Sample Size29084
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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