A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458683



Internal ID15518748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43001832..43187166hg38UCSC Ensembl
Innerchr19:43505984..43691318hg19UCSC Ensembl
Innerchr19:48197824..48383158hg18UCSC Ensembl
Innerchr19:48197824..48383158hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38185335
hg19185335
hg18185335
hg17185335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv420n27
Supporting Variantsnssv535595
SamplesHGDP00520
Known GenesPSG11, PSG2, PSG5
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)nsv458683
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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