A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508686



Internal ID15480362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198891879..198900515hg38UCSC Ensembl
Outerchr1:198861008..198869644hg19UCSC Ensembl
Outerchr1:197127631..197136267hg18UCSC Ensembl
Outerchr1:195592665..195601301hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg388637
hg198637
hg188637
hg178637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622784
SamplesNA18994
Known GenesMIR181A1HG
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)nsv508686
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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