A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509798



Internal ID15477296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43152853..43199866hg38UCSC Ensembl
Outerchr21:44572963..44619976hg19UCSC Ensembl
Outerchr21:43446032..43493045hg18UCSC Ensembl
Outerchr21:43446032..43493045hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384404
hg194404
hg184404
hg174404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623838, nssv619861, nssv621140, nssv618142
SamplesCHM, NA18994, NA15510, NA10860
Known GenesCRYAA
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)nsv509798
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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