A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023219



Internal ID18765751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..7930428hg38UCSC Ensembl
Innerchr8:7170477..7787950hg19UCSC Ensembl
Innerchr8:7157887..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38617474
hg19617474
hg18667474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3677781, nssv3677782
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, 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)nsv1023219
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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