A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509681



Internal ID15477179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3108407..3114724hg38UCSC Ensembl
Outerchr18:3108405..3114722hg19UCSC Ensembl
Outerchr18:3098405..3104722hg18UCSC Ensembl
Outerchr18:3098405..3104722hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383062
hg193062
hg183062
hg173062
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621048, nssv619723
SamplesNA15510, NA10860
Known GenesMYOM1
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)nsv509681
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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