A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597080



Internal ID16384489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9545589..9546339hg38UCSC Ensembl
Innerchr5:9545701..9546451hg19UCSC Ensembl
Innerchr5:9598701..9599451hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38751
hg19751
hg18751
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9573n54
Supporting Variantsnssv1024149, nssv1024152, nssv1024150, nssv1024147, nssv1024151, nssv1024148
Samples
Known GenesSEMA5A, SNHG18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597080
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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