A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv558497



Internal ID15581068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161215297..161219248hg38UCSC Ensembl
Outerchr1:161185087..161189038hg19UCSC Ensembl
Outerchr1:159451711..159455662hg18UCSC Ensembl
Outerchr1:157998160..158002111hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383952
hg193952
hg183952
hg173952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv482136
Supporting Variants
SamplesKB1
Known GenesFCER1G
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
CommentsFCER1G
ReferenceSchuster_et_al_2010
Pubmed ID20164927
Accession Number(s)nssv558497
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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