A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024393



Internal ID19113610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7886530hg38UCSC Ensembl
Innerchr8:7267353..7744052hg19UCSC Ensembl
Innerchr8:7254763..7781462hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38476700
hg19476700
hg18526700
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679770, nssv3679775, nssv3679771, nssv3755273, nssv3679765, nssv3755281, nssv3679768, nssv3679773, nssv3755279, nssv3679769, nssv3755276, nssv3679780, nssv3679763, nssv3679774, nssv3679783, nssv3679766, nssv3679772, nssv3679776, nssv3679782, nssv3679764, nssv3755275, nssv3755278, nssv3679767, nssv3679777, nssv3755272, nssv3755274, nssv3755280, nssv3755271, nssv3679781, nssv3755270, nssv3679778, nssv3679779, nssv3755277
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024393
Frequency
Sample Size11257
Observed Gain31
Observed Loss2
Observed Complex0
Frequencyn/a


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