A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600663



Internal ID16041386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179794788..179801369hg38UCSC Ensembl
Innerchr5:179221789..179228369hg19UCSC Ensembl
Innerchr5:179154395..179160975hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386582
hg196581
hg186581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10241n54
Supporting Variantsnssv1047026
Samples
Known GenesLTC4S, MGAT4B, MIR1229
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600663
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