A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034580



Internal ID18777114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7541023hg38UCSC Ensembl
Innerchr8:7250368..7398545hg19UCSC Ensembl
Innerchr8:7237778..7385955hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38148178
hg19148178
hg18148178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6928n100
Supporting Variantsnssv3678995
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034580
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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