A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545567



Internal ID15986290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13558784..14026576hg38UCSC Ensembl
Innerchr1:13885279..14353071hg19UCSC Ensembl
Innerchr1:13757866..14225658hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38467793
hg19467793
hg18467793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710253
Samples
Known GenesPDPN, PRDM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545567
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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