A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588949



Internal ID16376358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35545973..35582568hg38UCSC Ensembl
Innerchr22:35942020..35978615hg19UCSC Ensembl
Innerchr22:34271966..34308561hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3836596
hg1936596
hg1836596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv955460, nssv955459
Samples
Known GenesRASD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588949
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer