A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535441



Internal ID15157889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20673648..20804744hg38UCSC Ensembl
Innerchr19:20856454..20987550hg19UCSC Ensembl
Innerchr19:20648294..20779390hg18UCSC Ensembl
Innerchr19:20648294..20779390hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38131097
hg19131097
hg18131097
hg17131097
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458524
Supporting Variants
Samples1782681317_A
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv535441
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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