A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549395



Internal ID16336804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236081715..236134858hg38UCSC Ensembl
Innerchr1:236245015..236298158hg19UCSC Ensembl
Innerchr1:234311638..234364781hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3853144
hg1953144
hg1853144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738183
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549395
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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