A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029955



Internal ID18772486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7930199hg38UCSC Ensembl
Innerchr8:7250368..7787721hg19UCSC Ensembl
Innerchr8:7237778..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38537354
hg19537354
hg18587354
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679181, nssv3679178, nssv3679183, nssv3679177, nssv3679180, nssv3679179, nssv3679184, nssv3679182, nssv3679176
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, 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)nsv1029955
Frequency
Sample Size29084
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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