A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508690



Internal ID15480366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207504396..207597089hg38UCSC Ensembl
Outerchr1:207677741..207770434hg19UCSC Ensembl
Outerchr1:205744364..205837057hg18UCSC Ensembl
Outerchr1:204066136..204158829hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3892694
hg1992694
hg1892694
hg1792694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618998, nssv617393, nssv622786, nssv620146
SamplesCHM, NA15510, NA18994, NA10860
Known GenesCR1
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)nsv508690
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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