A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507036



Internal ID15823127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:138575223..138581223hg38UCSC Ensembl
Outerchr2:139332793..139338793hg19UCSC Ensembl
Outerchr2:139049263..139055263hg18UCSC Ensembl
Outerchr2:139166525..139172525hg17UCSC Ensembl
Cytoband2q22.1
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 Variantsnssv621667, nssv620732, nssv623353, nssv617571
SamplesCHM, NA15510, NA18994, 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)nsv507036
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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