A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677809



Internal ID18629404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..8091956hg38UCSC Ensembl
Innerchr8:7170477..7949478hg19UCSC Ensembl
Innerchr8:7157887..7986888hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38779002
hg19779002
hg18829002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019661
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677809
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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