A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555214



Internal ID15995937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65568234..65663889hg38UCSC Ensembl
Innerchr11:65335705..65431360hg19UCSC Ensembl
Innerchr11:65092281..65187936hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3895656
hg1995656
hg1895656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969n54
Supporting Variantsnssv777181
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)nsv555214
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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