A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618672



Internal ID15816478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112269915..112355029hg38UCSC Ensembl
Outerchr13:112924229..113009343hg19UCSC Ensembl
Outerchr13:111972230..112057344hg18UCSC Ensembl
Outerchr13:111972230..112057344hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3885115
hg1985115
hg1885115
hg1785115
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511026
Supporting Variants
SamplesCHM
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)nssv618672
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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