A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578444



Internal ID16019167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4502189..4559634hg38UCSC Ensembl
Innerchr19:4502201..4559646hg19UCSC Ensembl
Innerchr19:4453201..4510646hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3857446
hg1957446
hg1857446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv892918
Samples
Known GenesHDGFRP2, LRG1, PLIN4, PLIN5, SEMA6B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578444
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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