A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593113



Internal ID16380522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197002664..197003542hg38UCSC Ensembl
Innerchr3:196729535..196730413hg19UCSC Ensembl
Innerchr3:198213932..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38879
hg19879
hg18879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8857n54
Supporting Variantsnssv987045, nssv987044
Samples
Known GenesMFI2, MFI2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593113
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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