A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509254



Internal ID15825280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21794835..21866164hg38UCSC Ensembl
Outerchr8:21652347..21723675hg19UCSC Ensembl
Outerchr8:21708293..21779621hg18UCSC Ensembl
Outerchr8:21708293..21779621hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383293
hg193293
hg183293
hg173293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623529
SamplesNA18994
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)nsv509254
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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