A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598210



Internal ID16038933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56881616..56958658hg38UCSC Ensembl
Innerchr5:56177443..56254485hg19UCSC Ensembl
Innerchr5:56213200..56290242hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3877043
hg1977043
hg1877043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030780
Samples
Known GenesMAP3K1, MIER3, SETD9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598210
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