A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549464



Internal ID15990187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242247812..242678998hg38UCSC Ensembl
Innerchr1:242411114..242842300hg19UCSC Ensembl
Innerchr1:240477737..240908923hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38431187
hg19431187
hg18431187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv875n54
Supporting Variantsnssv739145
Samples
Known GenesPLD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549464
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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