A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581622



Internal ID18533217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45800278..45825964hg38UCSC Ensembl
Innerchr2:46027417..46053103hg19UCSC Ensembl
Innerchr2:45880921..45906607hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3825687
hg1925687
hg1825687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009406
Supporting Variants
Samples
Known GenesPRKCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581622
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer