A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456050



Internal ID15516115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85306287..85378190hg38UCSC Ensembl
Innerchr13:85880422..85952325hg19UCSC Ensembl
Innerchr13:84778423..84850326hg18UCSC Ensembl
Innerchr13:84778423..84850326hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3871904
hg1971904
hg1871904
hg1771904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533469
SamplesHGDP00155
Known GenesLINC00351
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)nsv456050
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