A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456057



Internal ID15516122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88219504..88328018hg38UCSC Ensembl
Innerchr13:88871759..88980273hg19UCSC Ensembl
Innerchr13:87669760..87778274hg18UCSC Ensembl
Innerchr13:87669760..87778274hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38108515
hg19108515
hg18108515
hg17108515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533473
SamplesHGDP00064
Known Genes
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)nsv456057
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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