A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612919



Internal ID16053642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144311504..144338449hg38UCSC Ensembl
Innerchr8:145535190..145562111hg19UCSC Ensembl
Innerchr8:145505998..145532919hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3826946
hg1926922
hg1826922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125773
Samples
Known GenesDGAT1, HSF1, MIR6848, SCRT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612919
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer