A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543673



Internal ID15162736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55722901hg38UCSC Ensembl
Innerchr11:55371021..55490377hg19UCSC Ensembl
Innerchr11:55127597..55246953hg18UCSC Ensembl
Innerchr11:55127597..55246953hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38119357
hg19119357
hg18119357
hg17119357
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468555
Supporting Variants
SamplesHGDP01003
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)nssv543673
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