A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581478



Internal ID16368887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38148887..38170980hg38UCSC Ensembl
Innerchr2:38376029..38398122hg19UCSC Ensembl
Innerchr2:38229533..38251626hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3822094
hg1922094
hg1822094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6788n54
Supporting Variantsnssv906867
Samples
Known GenesCYP1B1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581478
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