A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511111



Internal ID15478605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95201395..95232726hg38UCSC Ensembl
Outerchr5:94537099..94568430hg19UCSC Ensembl
Outerchr5:94562855..94594186hg18UCSC Ensembl
Outerchr5:94562855..94594186hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3831332
hg1931332
hg1831332
hg1731332
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618647, nssv621585
SamplesCHM, NA15510
Known GenesMCTP1
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)nsv511111
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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