A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610065



Internal ID16050788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7536511hg38UCSC Ensembl
Innerchr8:7276002..7394033hg19UCSC Ensembl
Innerchr8:7263412..7381443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118032
hg19118032
hg18118032
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105762, nssv1105761, nssv1105753, nssv1105759, nssv1105754, nssv1105755, nssv1105756, nssv1105757, nssv1105763, nssv1105758, nssv1105760
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610065
Frequency
Sample Size17421
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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