A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507100



Internal ID15823191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:65894316..65900316hg38UCSC Ensembl
Outerchr3:65879991..65885991hg19UCSC Ensembl
Outerchr3:65855031..65861031hg18UCSC Ensembl
Outerchr3:65855031..65861031hg17UCSC Ensembl
Cytoband3p14.1
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 Variantsnssv622855, nssv621704, nssv617602
SamplesCHM, NA18994, NA10860
Known GenesMAGI1, MAGI1-AS1
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)nsv507100
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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