A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034765



Internal ID18777298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7540351hg38UCSC Ensembl
Innerchr8:7214599..7397873hg19UCSC Ensembl
Innerchr8:7202009..7385283hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38183275
hg19183275
hg18183275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6924n100
Supporting Variantsnssv3678533
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)nsv1034765
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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