A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509791



Internal ID15825817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18142328..18163934hg38UCSC Ensembl
Outerchr21:19514645..19536251hg19UCSC Ensembl
Outerchr21:18436516..18458122hg18UCSC Ensembl
Outerchr21:18436516..18458122hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg383979
hg193979
hg183979
hg173979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619855
SamplesNA10860
Known GenesCHODL
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)nsv509791
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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