A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556497



Internal ID15997220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205679..125223954hg38UCSC Ensembl
Innerchr11:125075575..125093850hg19UCSC Ensembl
Innerchr11:124580785..124599060hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3818276
hg1918276
hg1818276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n54
Supporting Variantsnssv784668
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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