A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610089



Internal ID16397498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7507765..7574064hg38UCSC Ensembl
Innerchr8:7365287..7431586hg19UCSC Ensembl
Innerchr8:7352697..7418996hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3866300
hg1966300
hg1866300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11925n54
Supporting Variantsnssv1105798
Samples
Known GenesDEFB107A, DEFB107B, FAM90A7P, PRR23D1, PRR23D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610089
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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