A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019061



Internal ID18761594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6932720..6968014hg38UCSC Ensembl
Innerchr8:6790242..6825536hg19UCSC Ensembl
Innerchr8:6777652..6812946hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3835295
hg1935295
hg1835295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677441
Samples
Known GenesDEFA4, DEFA8P, DEFA9P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019061
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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