A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555174



Internal ID15995897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62566624..62729047hg38UCSC Ensembl
Innerchr11:62334096..62496519hg19UCSC Ensembl
Innerchr11:62090672..62253095hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38162424
hg19162424
hg18162424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv777139
Samples
Known GenesB3GAT3, BSCL2, C11orf48, C11orf83, EEF1G, EML3, GANAB, GNG3, HNRNPUL2, HNRNPUL2-BSCL2, INTS5, LOC102288414, LRRN4CL, METTL12, MIR6747, MTA2, ROM1, SNORA57, TTC9C, TUT1, UBXN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555174
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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