A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029612



Internal ID18772143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..8120653hg38UCSC Ensembl
Innerchr8:7029978..7978175hg19UCSC Ensembl
Innerchr8:7017388..8015585hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38948198
hg19948198
hg18998198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6890n100
Supporting Variantsnssv3677688
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, 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)nsv1029612
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