A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598938



Internal ID16386347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92082012..92111899hg38UCSC Ensembl
Innerchr5:91377829..91407716hg19UCSC Ensembl
Innerchr5:91413585..91443472hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3829888
hg1929888
hg1829888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153046
SamplesNINDS_183
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598938
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