A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546728



Internal ID16334137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85920193..85938076hg38UCSC Ensembl
Innerchr1:86385876..86403759hg19UCSC Ensembl
Innerchr1:86158464..86176347hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3817884
hg1917884
hg1817884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv353n54
Supporting Variantsnssv718490
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546728
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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