A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030307



Internal ID18772838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477475..7541457hg38UCSC Ensembl
Innerchr8:7334997..7398979hg19UCSC Ensembl
Innerchr8:7322407..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863983
hg1963983
hg1863983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6945n100
Supporting Variantsnssv3680441, nssv3680437, nssv3753616, nssv3680439, nssv3680440, nssv3680438, nssv3680442
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030307
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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