A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017697



Internal ID18760231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7540351..7894609hg38UCSC Ensembl
Innerchr8:7397873..7752131hg19UCSC Ensembl
Innerchr8:7385283..7789541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38354259
hg19354259
hg18404259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6940n100
Supporting Variantsnssv3680719, nssv3680718, nssv3753681
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, 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)nsv1017697
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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