A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581323



Internal ID16022046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33540295..33541732hg38UCSC Ensembl
Innerchr2:33765362..33766799hg19UCSC Ensembl
Innerchr2:33618866..33620303hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381438
hg191438
hg181438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6755n54
Supporting Variantsnssv904994, nssv904993
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581323
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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