A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509631



Internal ID15825657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71279342..71336612hg38UCSC Ensembl
Outerchr16:71313245..71370515hg19UCSC Ensembl
Outerchr16:69870746..69928016hg18UCSC Ensembl
Outerchr16:69870746..69928016hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385586
hg195586
hg185586
hg175586
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619694, nssv618119, nssv623701
SamplesCHM, NA18994, NA10860
Known GenesCMTR2
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)nsv509631
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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