A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509872



Internal ID15825898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189444610..189450610hg38UCSC Ensembl
Outerchr3:189162399..189168399hg19UCSC Ensembl
Outerchr3:190645093..190651093hg18UCSC Ensembl
Outerchr3:190645101..190651101hg17UCSC Ensembl
Cytoband3q28
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 Variantsnssv618594, nssv622038, nssv623929
SamplesCHM, NA18994, NA10860
Known Genes
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)nsv509872
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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