A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590101



Internal ID16030824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38000691..38065526hg38UCSC Ensembl
Innerchr3:38042182..38107017hg19UCSC Ensembl
Innerchr3:38017186..38082021hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3864836
hg1964836
hg1864836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962379
Samples
Known GenesDLEC1, PLCD1, VILL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590101
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