A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017127



Internal ID18759662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7952372hg38UCSC Ensembl
Innerchr8:7633066..7809894hg19UCSC Ensembl
Innerchr8:7670476..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38176829
hg19176829
hg18176829
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6961n100
Supporting Variantsnssv3680866, nssv3680859, nssv3680863, nssv3680864, nssv3680871, nssv3680865, nssv3680869, nssv3680872, nssv3680868, nssv3680862, nssv3680857, nssv3680861, nssv3680860, nssv3680870, nssv3680867, nssv3680858
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017127
Frequency
Sample Size29084
Observed Gain10
Observed Loss6
Observed Complex0
Frequencyn/a


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