A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610013



Internal ID16050736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6934054..6936685hg38UCSC Ensembl
Innerchr8:6791576..6794207hg19UCSC Ensembl
Innerchr8:6778986..6781617hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382632
hg192632
hg182632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11906n54
Supporting Variantsnssv1105682, nssv1105684, nssv1105683
Samples
Known GenesDEFA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610013
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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