A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594866



Internal ID16035589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91916433..92455080hg38UCSC Ensembl
Innerchr4:92837584..93376231hg19UCSC Ensembl
Innerchr4:93056607..93595254hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38538648
hg19538648
hg18538648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153481
SamplesHGDP00591
Known GenesGRID2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594866
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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