A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549141



Internal ID15989864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212284975..212286221hg38UCSC Ensembl
Innerchr1:212458317..212459563hg19UCSC Ensembl
Innerchr1:210524940..210526186hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv804n54
Supporting Variantsnssv736844, nssv736845
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549141
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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