A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612969



Internal ID16053692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144785726..144877525hg38UCSC Ensembl
Innerchr8:146011111..146102910hg19UCSC Ensembl
Innerchr8:145981915..146073714hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3891800
hg1991800
hg1891800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125832
Samples
Known GenesCOMMD5, MIR6850, RPL8, ZNF250, ZNF34, ZNF517, ZNF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612969
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