A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623830



Internal ID15822403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48502349..48536537hg38UCSC Ensembl
Outerchr20:47130595..47153075hg19UCSC Ensembl
Outerchr20:46564002..46586482hg18UCSC Ensembl
Outerchr20:46564002..46586482hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3813240
hg1913240
hg1813240
hg1713240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509774
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623830
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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