A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507191



Internal ID6097268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120061523..120067523hg19UCSC Ensembl
Outerchr4:120280971..120286971hg18UCSC Ensembl
Outerchr4:120419126..120425126hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv620261, nssv621761, nssv617641
SamplesCHM, NA15510, NA10860
Known GenesMYOZ2
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)nsv507191
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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