A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549094



Internal ID16336503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208265620..208284575hg38UCSC Ensembl
Innerchr1:208438965..208457920hg19UCSC Ensembl
Innerchr1:206505588..206524543hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3818956
hg1918956
hg1818956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736029
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549094
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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