A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587862



Internal ID16028585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45512414..45601870hg38UCSC Ensembl
Innerchr21:46932328..47021784hg19UCSC Ensembl
Innerchr21:45756756..45846212hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3889457
hg1989457
hg1889457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948547
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587862
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