A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508586



Internal ID15480262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:58516186..58621289hg38UCSC Ensembl
Outerchr10:60275946..60381049hg19UCSC Ensembl
Outerchr10:59945952..60051055hg18UCSC Ensembl
Outerchr10:59945952..60051055hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38105104
hg19105104
hg18105104
hg17105104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618930
SamplesNA10860
Known GenesBICC1
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)nsv508586
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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