A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508420



Internal ID15824447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85991833..86042155hg38UCSC Ensembl
Outerchr6:86701551..86751873hg19UCSC Ensembl
Outerchr6:86758270..86808592hg18UCSC Ensembl
Outerchr6:86758270..86808592hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3850323
hg1950323
hg1850323
hg1750323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619978, nssv622554, nssv618793, nssv617525
SamplesCHM, NA15510, 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)nsv508420
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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