A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455851



Internal ID15515916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29153921..29172357hg38UCSC Ensembl
Innerchr13:29728058..29746494hg19UCSC Ensembl
Innerchr13:28626058..28644494hg18UCSC Ensembl
Innerchr13:28626058..28644494hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3818437
hg1918437
hg1818437
hg1718437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533318
SamplesHGDP00433
Known GenesMTUS2
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)nsv455851
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