A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549247



Internal ID16336656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223995897..224016216hg38UCSC Ensembl
Innerchr1:224183599..224203918hg19UCSC Ensembl
Innerchr1:222250222..222270541hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3820320
hg1920320
hg1820320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv827n54
Supporting Variantsnssv737309, nssv737316, nssv737314, nssv737313, nssv737312, nssv737311, nssv737308, nssv737315, nssv737307, nssv737310
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549247
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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