A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610081



Internal ID16050804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7486284..7497079hg38UCSC Ensembl
Innerchr8:7343806..7354601hg19UCSC Ensembl
Innerchr8:7331216..7342011hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3810796
hg1910796
hg1810796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11922n54
Supporting Variantsnssv1105783, nssv1105784, nssv1105785
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610081
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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