A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467455



Internal ID15180834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110819541..110852713hg38UCSC Ensembl
Innerchr10:112579299..112612471hg19UCSC Ensembl
Innerchr10:112569289..112602461hg18UCSC Ensembl
Innerchr10:112569289..112602461hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3833173
hg1933173
hg1833173
hg1733173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542744
SamplesHGDP01238
Known GenesRBM20
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)nsv467455
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