A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610123



Internal ID16050846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7829864..8018835hg38UCSC Ensembl
Innerchr8:7687386..7876357hg19UCSC Ensembl
Innerchr8:7724796..7913767hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38188972
hg19188972
hg18188972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11931n54
Supporting Variantsnssv1105841
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB109P1B, DEFB4A, FAM66E, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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