A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578125



Internal ID16365534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:517392..518897hg38UCSC Ensembl
Innerchr19:517392..518897hg19UCSC Ensembl
Innerchr19:468392..469897hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381506
hg191506
hg181506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891138, nssv891139
Samples
Known GenesTPGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578125
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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