A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507209



Internal ID15823300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:163375849..163381849hg38UCSC Ensembl
Outerchr4:164297001..164303001hg19UCSC Ensembl
Outerchr4:164516451..164522451hg18UCSC Ensembl
Outerchr4:164654606..164660606hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617652
SamplesCHM
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv507209
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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