A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623448



Internal ID15822021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90134378..90155568hg38UCSC Ensembl
Outerchr5:89430195..89451385hg19UCSC Ensembl
Outerchr5:89465951..89487141hg18UCSC Ensembl
Outerchr5:89465951..89487141hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386296
hg196296
hg186296
hg176296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509075
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)nssv623448
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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