A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578127



Internal ID16365536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:517990..519032hg38UCSC Ensembl
Innerchr19:517990..519032hg19UCSC Ensembl
Innerchr19:468990..470032hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381043
hg191043
hg181043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891142
Samples
Known GenesTPGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578127
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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