A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021497



Internal ID18764031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433385..7873159hg38UCSC Ensembl
Innerchr8:7290907..7730681hg19UCSC Ensembl
Innerchr8:7278317..7768091hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38439775
hg19439775
hg18489775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3680194, nssv3680193
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1021497
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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