A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611814



Internal ID16052537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100097796..100177024hg38UCSC Ensembl
Innerchr8:101110024..101189252hg19UCSC Ensembl
Innerchr8:101179200..101258428hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3879229
hg1979229
hg1879229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1118161
Samples
Known GenesFBXO43, POLR2K, RGS22, SPAG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611814
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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