A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930598



Internal ID16224554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203320035..203327478hg38UCSC Ensembl
Innerchr2:204184758..204192201hg19UCSC Ensembl
Innerchr2:203893003..203900446hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg387444
hg197444
hg187444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584239
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930598
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