A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597542



Internal ID16384951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23337315..23395796hg38UCSC Ensembl
Innerchr5:23337424..23395905hg19UCSC Ensembl
Innerchr5:23373181..23431662hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3858482
hg1958482
hg1858482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1027496
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597542
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