A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018524



Internal ID18761057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7514711hg38UCSC Ensembl
Innerchr8:7214599..7372233hg19UCSC Ensembl
Innerchr8:7202009..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157635
hg19157635
hg18157635
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6923n100
Supporting Variantsnssv3754147, nssv3678519, nssv3754148, nssv3678521, nssv3678522, nssv3678520
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018524
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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