A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030688



Internal ID18773219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7452790..7930067hg38UCSC Ensembl
Innerchr8:7310312..7787589hg19UCSC Ensembl
Innerchr8:7297722..7824999hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38477278
hg19477278
hg18527278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3680359
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030688
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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