A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599366



Internal ID16386775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575088hg38UCSC Ensembl
Innerchr5:110906071..110910785hg19UCSC Ensembl
Innerchr5:110933970..110938684hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384716
hg194715
hg184715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040262, nssv1153579
SamplesHGDP00264
Known GenesSTARD4-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599366
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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