A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033461



Internal ID18775994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7446203..7838727hg38UCSC Ensembl
Innerchr8:7303725..7696249hg19UCSC Ensembl
Innerchr8:7291135..7733659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38392525
hg19392525
hg18442525
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3680348, nssv3680349, nssv3680350
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1033461
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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