A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581501



Internal ID16368910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40029078..40058005hg38UCSC Ensembl
Innerchr2:40256218..40285145hg19UCSC Ensembl
Innerchr2:40109722..40138649hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3828928
hg1928928
hg1828928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv906891
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581501
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