A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024146



Internal ID18766679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7452790..7873159hg38UCSC Ensembl
Innerchr8:7310312..7730681hg19UCSC Ensembl
Innerchr8:7297722..7768091hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38420370
hg19420370
hg18470370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6940n100
Supporting Variantsnssv3680357
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024146
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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