A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598151



Internal ID16385560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52037296..52121508hg38UCSC Ensembl
Innerchr5:51333130..51417342hg19UCSC Ensembl
Innerchr5:51368887..51453099hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3884213
hg1984213
hg1884213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9783n54
Supporting Variantsnssv1153932
SamplesHGDP00925
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598151
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