A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612816



Internal ID16053539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143581491..143611897hg38UCSC Ensembl
Innerchr8:144663661..144694067hg19UCSC Ensembl
Innerchr8:144734804..144765210hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830407
hg1930407
hg1830407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12418n54
Supporting Variantsnssv1125494
Samples
Known GenesEEF1D, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612816
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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