A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034939



Internal ID18777471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7788793hg38UCSC Ensembl
Innerchr8:7250368..7646315hg19UCSC Ensembl
Innerchr8:7237778..7683725hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38395948
hg19395948
hg18445948
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3755049, nssv3755047, nssv3679035, nssv3679037, nssv3679031, nssv3679040, nssv3755050, nssv3755048, nssv3679033, nssv3679034, nssv3679030, nssv3679032, nssv3679027, nssv3679039, nssv3679038, nssv3755051, nssv3679028, nssv3755052, nssv3755053, nssv3679036, nssv3679029
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)nsv1034939
Frequency
Sample Size29084
Observed Gain12
Observed Loss9
Observed Complex0
Frequencyn/a


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