A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581693



Internal ID16022416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44278046..44337885hg38UCSC Ensembl
Innerchr2:44505185..44565024hg19UCSC Ensembl
Innerchr2:44358689..44418528hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3859840
hg1959840
hg1859840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6837n54
Supporting Variantsnssv908033
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581693
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