A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592030



Internal ID16379439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149551402..149553300hg38UCSC Ensembl
Innerchr3:149269189..149271087hg19UCSC Ensembl
Innerchr3:150751879..150753777hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8646n54
Supporting Variantsnssv976720
Samples
Known GenesWWTR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592030
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