A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599480



Internal ID16040203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116128903..116148555hg38UCSC Ensembl
Innerchr5:115464600..115484252hg19UCSC Ensembl
Innerchr5:115492499..115512151hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3819653
hg1919653
hg1819653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040568
Samples
Known GenesCOMMD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599480
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