A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549147



Internal ID15989870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212285280..212286281hg38UCSC Ensembl
Innerchr1:212458622..212459623hg19UCSC Ensembl
Innerchr1:210525245..210526246hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv806n54
Supporting Variantsnssv736860
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549147
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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