A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562199



Internal ID16349608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68873982..68907601hg38UCSC Ensembl
Innerchr13:69448114..69481733hg19UCSC Ensembl
Innerchr13:68346115..68379734hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3833620
hg1933620
hg1833620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175983
SamplesHGDP00626
Known GenesLINC00550, MIR548H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562199
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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