A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv972961



Internal ID16266917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128403977..128463535hg38UCSC Ensembl
Innerchr3:128122820..128182378hg19UCSC Ensembl
Innerchr3:129605510..129665068hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3859559
hg1959559
hg1859559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591597
Supporting Variants
Samples
Known GenesDNAJB8, EEFSEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv972961
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