A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578296



Internal ID16365705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1495467..1516998hg38UCSC Ensembl
Innerchr19:1495466..1516997hg19UCSC Ensembl
Innerchr19:1446466..1467997hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821532
hg1921532
hg1821532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891807
Samples
Known GenesADAMTSL5, REEP6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578296
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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