A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016242



Internal ID19105461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7545918hg38UCSC Ensembl
Innerchr8:7297328..7403440hg19UCSC Ensembl
Innerchr8:7284738..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106113
hg19106113
hg18106113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680273, nssv3756528, nssv3680271, nssv3680276, nssv3680277, nssv3680275, nssv3680272, nssv3680280, nssv3680279, nssv3680281, nssv3680274, nssv3680278
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1016242
Frequency
Sample Size11257
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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