A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458771



Internal ID15518836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53429042..53510924hg38UCSC Ensembl
Innerchr19:53932295..54014178hg19UCSC Ensembl
Innerchr19:58624107..58705990hg18UCSC Ensembl
Innerchr19:58624107..58705990hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3881883
hg1981884
hg1881884
hg1781884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv431n27
Supporting Variantsnssv535673
SamplesHGDP00674
Known GenesTPM3P9, ZNF761, ZNF813
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)nsv458771
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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