A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736843



Internal ID15684113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212284975..212285915hg38UCSC Ensembl
Innerchr1:212458317..212459257hg19UCSC Ensembl
Innerchr1:210524940..210525880hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38941
hg19941
hg18941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549140
Supporting Variants
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736843
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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