A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458324



Internal ID15171703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1525308..1550651hg38UCSC Ensembl
Innerchr19:1525307..1550650hg19UCSC Ensembl
Innerchr19:1476307..1501650hg18UCSC Ensembl
Innerchr19:1476307..1501650hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3825344
hg1925344
hg1825344
hg1725344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535275
SamplesHGDP00654
Known GenesPLK5
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)nsv458324
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer