A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559808



Internal ID16000531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95533986..95600365hg38UCSC Ensembl
Innerchr12:95927762..95994141hg19UCSC Ensembl
Innerchr12:94451893..94518272hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3866380
hg1966380
hg1866380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800749
Samples
Known GenesUSP44
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559808
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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