A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029938



Internal ID18772469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7778314hg38UCSC Ensembl
Innerchr8:7267353..7635836hg19UCSC Ensembl
Innerchr8:7254763..7673246hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38368484
hg19368484
hg18418484
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3679738, nssv3679741, nssv3679740, nssv3679739, nssv3679737, nssv3755261
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029938
Frequency
Sample Size29084
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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