A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015262



Internal ID18757796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788793..7941317hg38UCSC Ensembl
Innerchr8:7646315..7798839hg19UCSC Ensembl
Innerchr8:7683725..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38152525
hg19152525
hg18152525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6960n100
Supporting Variantsnssv3680906, nssv3680908, nssv3680907
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1015262
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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