A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548254



Internal ID15558039
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 Number11
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471429
Supporting Variants
SamplesJDW
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)nssv548254
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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