A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458723



Internal ID15172102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50038886..50054619hg38UCSC Ensembl
Innerchr19:50542143..50557876hg19UCSC Ensembl
Innerchr19:55233955..55249688hg18UCSC Ensembl
Innerchr19:55233955..55249688hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3815734
hg1915734
hg1815734
hg1715734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535633
SamplesHGDP00918
Known GenesFLJ26850, ZNF473
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)nsv458723
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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