A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510443



Internal ID15477941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76921118..76927118hg38UCSC Ensembl
Outerchr17:74917200..74923200hg19UCSC Ensembl
Outerchr17:72428795..72434795hg18UCSC Ensembl
Outerchr17:72428795..72434795hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618431, nssv622273, nssv621448
SamplesCHM, NA15510, NA10860
Known GenesMGAT5B
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)nsv510443
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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