A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511020



Internal ID15827042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228533958..228728538hg38UCSC Ensembl
Outerchr1:228721659..228864285hg19UCSC Ensembl
Outerchr1:226788282..226930908hg18UCSC Ensembl
Outerchr1:225028394..225171020hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38194581
hg19142627
hg18142627
hg17142627
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618636
SamplesCHM
Known GenesDUSP5P1, RHOU
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)nsv511020
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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