A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598178



Internal ID16385587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54270381..54304613hg38UCSC Ensembl
Innerchr5:53566211..53600443hg19UCSC Ensembl
Innerchr5:53601968..53636200hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3834233
hg1934233
hg1834233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030364
Samples
Known GenesARL15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598178
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