A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599091



Internal ID16386500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99008867..99010810hg38UCSC Ensembl
Innerchr5:98344571..98346514hg19UCSC Ensembl
Innerchr5:98372471..98374414hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381944
hg191944
hg181944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9955n54
Supporting Variantsnssv1038793, nssv1038798, nssv1038794, nssv1038795, nssv1038797, nssv1038796, nssv1038799, nssv1038792
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599091
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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