A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610122



Internal ID16050845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7829864..7949609hg38UCSC Ensembl
Innerchr8:7687386..7807131hg19UCSC Ensembl
Innerchr8:7724796..7844541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38119746
hg19119746
hg18119746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11932n54
Supporting Variantsnssv1105840
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610122
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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