A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599401



Internal ID16386810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113627593..113645831hg38UCSC Ensembl
Innerchr5:112963290..112981528hg19UCSC Ensembl
Innerchr5:112991189..113009427hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3818239
hg1918239
hg1818239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10011n54
Supporting Variantsnssv1040396
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599401
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