A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596845



Internal ID16384254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1178554..1180452hg38UCSC Ensembl
Innerchr5:1178669..1180567hg19UCSC Ensembl
Innerchr5:1231669..1233567hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9531n54
Supporting Variantsnssv1022112, nssv1022101, nssv1022102, nssv1022108, nssv1022106, nssv1022116, nssv1022114, nssv1022113, nssv1022111, nssv1022105, nssv1022104, nssv1022109, nssv1022100, nssv1022110, nssv1022103, nssv1022107, nssv1022115
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596845
Frequency
Sample Size17421
Observed Gain14
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer