A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736853



Internal ID15684123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212285200..212286221hg38UCSC Ensembl
Innerchr1:212458542..212459563hg19UCSC Ensembl
Innerchr1:210525165..210526186hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381022
hg191022
hg181022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549144
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)nssv736853
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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