A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471429



Internal ID15558595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198152366..198180857hg38UCSC Ensembl
Outerchr3:197879237..197907728hg19UCSC Ensembl
Outerchr3:199363634..199392125hg18UCSC Ensembl
Outerchr3:199367547..199396038hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3828492
hg1928492
hg1828492
hg1728492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548254, nssv548255, nssv548257
SamplesNA18507, YH, JDW
Known GenesFAM157A
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsFAM157A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471429
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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