A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680883



Internal ID18632478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7778104..7987051hg38UCSC Ensembl
Innerchr8:7635626..7844573hg19UCSC Ensembl
Innerchr8:7673036..7881983hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38208948
hg19208948
hg18208948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029619
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, 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)nssv3680883
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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