A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555213



Internal ID15995936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65568234..65659875hg38UCSC Ensembl
Innerchr11:65335705..65427346hg19UCSC Ensembl
Innerchr11:65092281..65183922hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3891642
hg1991642
hg1891642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969n54
Supporting Variantsnssv777180
Samples
Known GenesEHBP1L1, FAM89B, KCNK7, MAP3K11, MIR4489, MIR4690, PCNXL3, RELA, SIPA1, SSSCA1, SSSCA1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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