A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017712



Internal ID18760246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7785611hg38UCSC Ensembl
Innerchr8:7254279..7643133hg19UCSC Ensembl
Innerchr8:7241689..7680543hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38388855
hg19388855
hg18438855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3679622
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017712
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