A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583031



Internal ID16370440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126974886..127000872hg38UCSC Ensembl
Innerchr2:127732462..127758448hg19UCSC Ensembl
Innerchr2:127448932..127474918hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825987
hg1925987
hg1825987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919658
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583031
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