A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467631



Internal ID15181010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..274780hg38UCSC Ensembl
Innerchr11:198510..274780hg19UCSC Ensembl
Innerchr11:188510..264780hg18UCSC Ensembl
Innerchr11:188510..264780hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3876271
hg1976271
hg1876271
hg1776271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542855
SamplesHGDP01371
Known GenesBET1L, MIR6743, ODF3, PSMD13, RIC8A, SIRT3
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)nsv467631
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