A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591459



Internal ID16378868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125053238..125056066hg38UCSC Ensembl
Innerchr3:124772082..124774910hg19UCSC Ensembl
Innerchr3:126254772..126257600hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382829
hg192829
hg182829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971889
Samples
Known GenesHEG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591459
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