A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542913



Internal ID15159335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:9056105..9093452hg38UCSC Ensembl
Innerchr11:9077652..9114999hg19UCSC Ensembl
Innerchr11:9034228..9071575hg18UCSC Ensembl
Innerchr11:9034228..9071575hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3837348
hg1937348
hg1837348
hg1737348
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467706
Supporting Variants
SamplesHGDP00328
Known GenesMIR5691, SCUBE2
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)nssv542913
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