A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024884



Internal ID18767415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8104925hg38UCSC Ensembl
Innerchr8:7250368..7962447hg19UCSC Ensembl
Innerchr8:7237778..7999857hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38712080
hg19712080
hg18762080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3679565, nssv3679564
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024884
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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