A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510980



Internal ID15827002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34427946..34472854hg38UCSC Ensembl
Outerchr8:34285464..34330372hg19UCSC Ensembl
Outerchr8:34405006..34449914hg18UCSC Ensembl
Outerchr8:34405006..34449914hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3844909
hg1944909
hg1844909
hg1744909
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618662
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)nsv510980
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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