A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507068



Internal ID15823159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219934963..219940963hg38UCSC Ensembl
Outerchr2:220799684..220805684hg19UCSC Ensembl
Outerchr2:220507928..220513928hg18UCSC Ensembl
Outerchr2:220625189..220631189hg17UCSC Ensembl
Cytoband2q35
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 Variantsnssv621686, nssv617584, nssv620748
SamplesCHM, NA15510, NA10860
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)nsv507068
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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