A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017639



Internal ID18760173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7785593hg38UCSC Ensembl
Innerchr8:7250368..7643115hg19UCSC Ensembl
Innerchr8:7237778..7680525hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38392748
hg19392748
hg18442748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3755046
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, 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)nsv1017639
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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