A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018166



Internal ID18760699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7974520hg38UCSC Ensembl
Innerchr8:7214599..7832042hg19UCSC Ensembl
Innerchr8:7202009..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38617444
hg19617444
hg18667444
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3678763, nssv3678759, nssv3678757, nssv3754965, nssv3678758, nssv3678761, nssv3678760, nssv3678762, nssv3678756, nssv3678764
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018166
Frequency
Sample Size29084
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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