A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507223



Internal ID15823314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183228007..183234007hg38UCSC Ensembl
Outerchr4:184149160..184155160hg19UCSC Ensembl
Outerchr4:184386154..184392154hg18UCSC Ensembl
Outerchr4:184524309..184530309hg17UCSC Ensembl
Cytoband4q35.1
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 Variantsnssv620277, nssv621775
SamplesNA15510, NA10860
Known GenesWWC2
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)nsv507223
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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