A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555327



Internal ID16342736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69792739..69864574hg38UCSC Ensembl
Innerchr11:69607507..69679342hg19UCSC Ensembl
Innerchr11:69316688..69388070hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3871836
hg1971836
hg1871383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174824
Samples1780862444_A
Known GenesFGF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555327
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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