A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618792



Internal ID15818596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:78800482..78828489hg38UCSC Ensembl
Outerchr6:79510199..79538206hg19UCSC Ensembl
Outerchr6:79566918..79594925hg18UCSC Ensembl
Outerchr6:79566918..79594925hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3828008
hg1928008
hg1828008
hg1728008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508416
Supporting Variants
SamplesNA10860
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)nssv618792
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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