A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510691



Internal ID15478187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68266527..68325431hg38UCSC Ensembl
Outerchr16:68300430..68359334hg19UCSC Ensembl
Outerchr16:66857931..66916835hg18UCSC Ensembl
Outerchr16:66857931..66916835hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3858905
hg1958905
hg1858905
hg1758905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622711
SamplesNA18994
Known GenesPRMT7, SLC7A6, SLC7A6OS
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)nsv510691
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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