A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584311



Internal ID16371720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211117170..211132079hg38UCSC Ensembl
Innerchr2:211981894..211996803hg19UCSC Ensembl
Innerchr2:211690139..211705048hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3814910
hg1914910
hg1814910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151167
SamplesHGDP00412
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584311
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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