A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509767



Internal ID15477265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37305577..37477600hg38UCSC Ensembl
Outerchr20:35933980..36106002hg19UCSC Ensembl
Outerchr20:35367394..35539416hg18UCSC Ensembl
Outerchr20:35367394..35539416hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg386202
hg196202
hg186202
hg176202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619843
SamplesNA10860
Known GenesMANBAL, SRC
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)nsv509767
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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