A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508855



Internal ID15824881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109224903..109293040hg38UCSC Ensembl
Outerchr2:109841359..109909496hg19UCSC Ensembl
Outerchr2:109207791..109275928hg18UCSC Ensembl
Outerchr2:109299877..109368014hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383273
hg193273
hg183273
hg173273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621172
SamplesNA15510
Known GenesSH3RF3
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)nsv508855
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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