A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509772



Internal ID15477270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47551246..47574577hg38UCSC Ensembl
Outerchr20:46179990..46203321hg19UCSC Ensembl
Outerchr20:45613397..45636728hg18UCSC Ensembl
Outerchr20:45613397..45636728hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383604
hg193604
hg183604
hg173604
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618136
SamplesCHM
Known GenesNCOA3
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)nsv509772
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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