A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610127



Internal ID16050850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7836263..7917598hg38UCSC Ensembl
Innerchr8:7693785..7775120hg19UCSC Ensembl
Innerchr8:7731195..7812530hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3881336
hg1981336
hg1881336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11933n54
Supporting Variantsnssv1105849, nssv1105850, nssv1105848
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610127
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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