A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508391



Internal ID15824418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8335781..8356470hg38UCSC Ensembl
Outerchr6:8336014..8356703hg19UCSC Ensembl
Outerchr6:8281013..8301702hg18UCSC Ensembl
Outerchr6:8281013..8301702hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3820690
hg1920690
hg1820690
hg1720690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617515
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)nsv508391
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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