A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584243



Internal ID16371652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204674369..204765895hg38UCSC Ensembl
Innerchr2:205539092..205630618hg19UCSC Ensembl
Innerchr2:205247337..205338863hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3891527
hg1991527
hg1891527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930605
Samples
Known GenesPARD3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584243
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