A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612931



Internal ID16400340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144353890..144358877hg38UCSC Ensembl
Innerchr8:145577550..145582537hg19UCSC Ensembl
Innerchr8:145548358..145553345hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384988
hg194988
hg184988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125792
Samples
Known GenesFBXL6, SLC52A2, TMEM249
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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