A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549241



Internal ID16336650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223916290..224029055hg38UCSC Ensembl
Innerchr1:224103992..224216757hg19UCSC Ensembl
Innerchr1:222170615..222283380hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38112766
hg19112766
hg18112766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826n54
Supporting Variantsnssv737298, nssv737297, nssv737296
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549241
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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