A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600045



Internal ID16387454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:152133822..152148270hg38UCSC Ensembl
Innerchr5:151513383..151527831hg19UCSC Ensembl
Innerchr5:151493576..151508024hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3814449
hg1914449
hg1814449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10130n54
Supporting Variantsnssv1153373
Samples1780854205_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600045
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