A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468609



Internal ID15181988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67628243..67666398hg38UCSC Ensembl
Innerchr11:67395714..67433869hg19UCSC Ensembl
Innerchr11:67152290..67190445hg18UCSC Ensembl
Innerchr11:67152290..67190445hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3838156
hg1938156
hg1838156
hg1738156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543712
SamplesHGDP00688
Known GenesACY3, ALDH3B2, NUDT8, TBX10
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)nsv468609
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