A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031184



Internal ID18773717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7788793hg38UCSC Ensembl
Innerchr8:7267353..7646315hg19UCSC Ensembl
Innerchr8:7254763..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38378963
hg19378963
hg18428963
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3679745, nssv3755263, nssv3679744, nssv3755264, nssv3755262, nssv3679747, nssv3755265, nssv3679746
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)nsv1031184
Frequency
Sample Size29084
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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