A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556490



Internal ID15997213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125200496..125239731hg38UCSC Ensembl
Innerchr11:125070392..125109627hg19UCSC Ensembl
Innerchr11:124575602..124614837hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3839236
hg1939236
hg1839236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784651, nssv784652
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556490
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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