A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509625



Internal ID15477123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:65128550..65146629hg38UCSC Ensembl
Outerchr16:65162453..65180532hg19UCSC Ensembl
Outerchr16:63719954..63738033hg18UCSC Ensembl
Outerchr16:63719954..63738033hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383249
hg193249
hg183249
hg173249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621027, nssv619692
SamplesNA15510, NA10860
Known Genes
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)nsv509625
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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