A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549463



Internal ID15990186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242102117..242693552hg38UCSC Ensembl
Innerchr1:242265419..242856854hg19UCSC Ensembl
Innerchr1:240332042..240923477hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38591436
hg19591436
hg18591436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv875n54
Supporting Variantsnssv739144
Samples
Known GenesPLD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549463
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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