A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016332



Internal ID19105551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11894289..12004288hg38UCSC Ensembl
Innerchr8:11751798..11861797hg19UCSC Ensembl
Innerchr8:11789207..11899206hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38110000
hg19110000
hg18110000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681739
Samples
Known GenesDEFB134, DEFB135, DEFB136
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016332
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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