A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578168



Internal ID16018891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:808586..811818hg38UCSC Ensembl
Innerchr19:808586..811818hg19UCSC Ensembl
Innerchr19:759586..762818hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383233
hg193233
hg183233
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891236
Samples
Known GenesPTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578168
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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