A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509764



Internal ID15477262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32279421..32346691hg38UCSC Ensembl
Outerchr20:30867224..30934494hg19UCSC Ensembl
Outerchr20:30330885..30398155hg18UCSC Ensembl
Outerchr20:30330885..30398155hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
hg173699
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623823
SamplesNA18994
Known GenesKIF3B
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)nsv509764
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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