A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458571



Internal ID15171950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39043114..39137410hg38UCSC Ensembl
Innerchr19:39533754..39628050hg19UCSC Ensembl
Innerchr19:44225594..44319890hg18UCSC Ensembl
Innerchr19:44225594..44319890hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3894297
hg1994297
hg1894297
hg1794297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535483
SamplesHGDP01348
Known GenesPAK4, PAPL
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)nsv458571
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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