A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017547



Internal ID18760081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7886530hg38UCSC Ensembl
Innerchr8:7250368..7744052hg19UCSC Ensembl
Innerchr8:7237778..7781462hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38493685
hg19493685
hg18543685
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3755086, nssv3679098, nssv3755080, nssv3679093, nssv3679107, nssv3679119, nssv3679131, nssv3679113, nssv3755075, nssv3679079, nssv3679120, nssv3679124, nssv3755084, nssv3755073, nssv3679092, nssv3679108, nssv3679100, nssv3679132, nssv3679110, nssv3679109, nssv3755088, nssv3679081, nssv3679082, nssv3755078, nssv3679121, nssv3679104, nssv3679134, nssv3679086, nssv3679090, nssv3755076, nssv3679096, nssv3679080, nssv3679133, nssv3679117, nssv3679138, nssv3755079, nssv3679125, nssv3755069, nssv3679088, nssv3679095, nssv3679084, nssv3679105, nssv3679126, nssv3679089, nssv3755074, nssv3755090, nssv3755087, nssv3679087, nssv3679128, nssv3679106, nssv3679083, nssv3679123, nssv3679122, nssv3755071, nssv3755070, nssv3679135, nssv3679102, nssv3679094, nssv3755081, nssv3755072, nssv3679114, nssv3679085, nssv3755082, nssv3679099, nssv3755083, nssv3679078, nssv3679097, nssv3679103, nssv3679112, nssv3679111, nssv3679101, nssv3755091, nssv3679115, nssv3679139, nssv3679116, nssv3679130, nssv3755077, nssv3679118, nssv3679091, nssv3679136, nssv3679129, nssv3755089, nssv3755068, nssv3755085, nssv3679127, nssv3679137
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1017547
Frequency
Sample Size29084
Observed Gain82
Observed Loss4
Observed Complex0
Frequencyn/a


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