A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581289



Internal ID16022012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999538..33001006hg38UCSC Ensembl
Innerchr2:33224605..33226073hg19UCSC Ensembl
Innerchr2:33078109..33079577hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381469
hg191469
hg181469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6751n54
Supporting Variantsnssv904646
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581289
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