A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509043



Internal ID15476541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:747066..915204hg38UCSC Ensembl
Outerchr5:747181..915319hg19UCSC Ensembl
Outerchr5:800181..968319hg18UCSC Ensembl
Outerchr5:800181..968319hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384061
hg194061
hg184061
hg174061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619400, nssv619401
SamplesNA10860
Known GenesBRD9, TRIP13, ZDHHC11
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)nsv509043
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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