A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026344



Internal ID19115562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11928746..12039668hg38UCSC Ensembl
Innerchr8:11786255..11897177hg19UCSC Ensembl
Innerchr8:11823664..11934586hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38110923
hg19110923
hg18110923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3681740
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)nsv1026344
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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