A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023395



Internal ID18765928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775544..7974520hg38UCSC Ensembl
Innerchr8:7633066..7832042hg19UCSC Ensembl
Innerchr8:7670476..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38198977
hg19198977
hg18198977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6962n100
Supporting Variantsnssv3680877, nssv3680875, nssv3680876
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023395
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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