A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754149



Internal ID18705744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7541457hg38UCSC Ensembl
Innerchr8:7214599..7398979hg19UCSC Ensembl
Innerchr8:7202009..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38184381
hg19184381
hg18184381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023987
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754149
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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