A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558425



Internal ID15234511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:3043622..3045745hg38UCSC Ensembl
Outerchr20:3024268..3026391hg19UCSC Ensembl
Outerchr20:2972268..2974391hg18UCSC Ensembl
Outerchr20:2972268..2974391hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382124
hg192124
hg182124
hg172124
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482064
Supporting Variants
SamplesKB1
Known GenesGNRH2
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
CommentsGNRH2
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558425
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