A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016382



Internal ID18758917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7541457hg38UCSC Ensembl
Innerchr8:7267353..7398979hg19UCSC Ensembl
Innerchr8:7254763..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38131627
hg19131627
hg18131627
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3679730, nssv3755259, nssv3755260, nssv3679731
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1016382
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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