A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507192



Internal ID6097717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121642345..121648345hg19UCSC Ensembl
Outerchr4:121861795..121867795hg18UCSC Ensembl
Outerchr4:121999950..122005950hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv617642
SamplesCHM
Known GenesPRDM5
Method
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)nsv507192
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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