A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022721



Internal ID18765255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7137583..7969833hg38UCSC Ensembl
Innerchr8:6995105..7827355hg19UCSC Ensembl
Innerchr8:6982515..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38832251
hg19832251
hg18882251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6882n100
Supporting Variantsnssv3677495, nssv3677494
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, 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)nsv1022721
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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