A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027761



Internal ID18770292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7425444..7778314hg38UCSC Ensembl
Innerchr8:7282966..7635836hg19UCSC Ensembl
Innerchr8:7270376..7673246hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38352871
hg19352871
hg18402871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3680155
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1027761
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