A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556489



Internal ID15997212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125191896..125214846hg38UCSC Ensembl
Innerchr11:125061792..125084742hg19UCSC Ensembl
Innerchr11:124567002..124589952hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3822951
hg1922951
hg1822951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175752
SamplesNINDS_272
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556489
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