A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558424



Internal ID15581237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240691845..240698482hg38UCSC Ensembl
Outerchr2:241631262..241637899hg19UCSC Ensembl
Outerchr2:241279935..241286572hg18UCSC Ensembl
Outerchr2:241351252..241357889hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386638
hg196638
hg186638
hg176638
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482063
Supporting Variants
SamplesKB1
Known GenesAQP12A
MethodSequencing
AnalysisWe constructed duplication maps for the KB1 genome and estimated the absolute copy number of each duplication interval larger than 20 kb in length. Using absolute estimates of copy number, we calculated an in silico log2 ratio for each the KB1 genome and compared copy number predictions with previously published copy numbers detected in NA18507 and YH genomes.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsAQP12A
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558424
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer