A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546819



Internal ID15987542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91791069..92093026hg38UCSC Ensembl
Innerchr1:92256626..92558583hg19UCSC Ensembl
Innerchr1:92029214..92331171hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38301958
hg19301958
hg18301958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365n54
Supporting Variantsnssv719299
Samples
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546819
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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