A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546721



Internal ID15987444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85760669..85926894hg38UCSC Ensembl
Innerchr1:86226352..86392577hg19UCSC Ensembl
Innerchr1:85998940..86165165hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38166226
hg19166226
hg18166226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718473
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546721
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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