A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510892



Internal ID15826915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69513227..69612747hg38UCSC Ensembl
Outerchr4:70378945..70478465hg19UCSC Ensembl
Outerchr4:70413534..70513054hg18UCSC Ensembl
Outerchr4:70559705..70659225hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3899521
hg1999521
hg1899521
hg1799521
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618605
SamplesCHM
Known GenesUGT2A1, UGT2A2
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)nsv510892
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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