A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556060



Internal ID16343469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:99313871..99315894hg38UCSC Ensembl
Innerchr11:99184602..99186625hg19UCSC Ensembl
Innerchr11:98689812..98691835hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg382024
hg192024
hg182024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2117n54
Supporting Variantsnssv781736, nssv781735
Samples
Known GenesCNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556060
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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