A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583000



Internal ID16370409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125685754..125711314hg38UCSC Ensembl
Innerchr2:126443331..126468891hg19UCSC Ensembl
Innerchr2:126159801..126185361hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825561
hg1925561
hg1825561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv918030
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583000
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