A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583250



Internal ID16370659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:145764519..145834478hg38UCSC Ensembl
Innerchr2:146522087..146592046hg19UCSC Ensembl
Innerchr2:146238557..146308516hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3869960
hg1969960
hg1869960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920282
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583250
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