A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509477



Internal ID15476975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113851756..113891804hg38UCSC Ensembl
Outerchr12:114289561..114329609hg19UCSC Ensembl
Outerchr12:112773944..112813992hg18UCSC Ensembl
Outerchr12:112752281..112792329hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383596
hg193596
hg183596
hg173596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619613
SamplesNA10860
Known GenesRBM19
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)nsv509477
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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