A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578170



Internal ID16018893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:811320..812327hg38UCSC Ensembl
Innerchr19:811320..812327hg19UCSC Ensembl
Innerchr19:762320..763327hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381008
hg191008
hg181008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6176n54
Supporting Variantsnssv891238
Samples
Known GenesPTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578170
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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