A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543012



Internal ID15160747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48483044..49935211hg38UCSC Ensembl
Innerchr11:48504596..49956763hg19UCSC Ensembl
Innerchr11:48461172..49913339hg18UCSC Ensembl
Innerchr11:48461172..49913339hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg381452168
hg191452168
hg181452168
hg171452168
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467874
Supporting Variants
SamplesHGDP00656
Known GenesFOLH1, LOC440040, OR4A47, TRIM49B, TRIM64C
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)nssv543012
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