A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020264



Internal ID18762800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7329098..7514711hg38UCSC Ensembl
Innerchr8:7186620..7372233hg19UCSC Ensembl
Innerchr8:7174030..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38185614
hg19185614
hg18185614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6906n100
Supporting Variantsnssv3754082
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020264
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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