A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460483



Internal ID15173862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13577220..13590502hg38UCSC Ensembl
Innerchr1:13903715..13916997hg19UCSC Ensembl
Innerchr1:13776302..13789584hg18UCSC Ensembl
Innerchr1:13649021..13662303hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813283
hg1913283
hg1813283
hg1713283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537046
Samples1780854159_A
Known GenesPDPN
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)nsv460483
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