A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549248



Internal ID16336657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223995897..224029055hg38UCSC Ensembl
Innerchr1:224183599..224216757hg19UCSC Ensembl
Innerchr1:222250222..222283380hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3833159
hg1933159
hg1833159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828n54
Supporting Variantsnssv737319, nssv737317, nssv737322, nssv737321, nssv737323, nssv737320, nssv737318
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549248
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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