A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510982



Internal ID15827004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57054469..57093937hg38UCSC Ensembl
Outerchr8:57967028..58006496hg19UCSC Ensembl
Outerchr8:58129582..58169050hg18UCSC Ensembl
Outerchr8:58129582..58169050hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3839469
hg1939469
hg1839469
hg1739469
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618663
SamplesCHM
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)nsv510982
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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