A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612814



Internal ID16053537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143574584..143604922hg38UCSC Ensembl
Innerchr8:144656754..144687092hg19UCSC Ensembl
Innerchr8:144727897..144758235hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830339
hg1930339
hg1830339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12418n54
Supporting Variantsnssv1125492
Samples
Known GenesEEF1D, NAPRT1, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612814
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