A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547928



Internal ID15988651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153639657..153741776hg38UCSC Ensembl
Innerchr1:153612133..153714252hg19UCSC Ensembl
Innerchr1:151878757..151980876hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38102120
hg19102120
hg18102120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n54
Supporting Variantsnssv724842
Samples
Known GenesCHTOP, ILF2, INTS3, MIR8083, NPR1, SNAPIN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547928
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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