A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458783



Internal ID15518848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54195523..54245159hg38UCSC Ensembl
Innerchr19:54699386..54749011hg19UCSC Ensembl
Innerchr19:59391198..59440823hg18UCSC Ensembl
Innerchr19:59391198..59440823hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3849637
hg1949626
hg1849626
hg1749626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535684
SamplesHGDP00780
Known GenesLILRA6, LILRB3, RPS9
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)nsv458783
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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