A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509628



Internal ID15477126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69175927..69248185hg38UCSC Ensembl
Outerchr16:69209830..69282088hg19UCSC Ensembl
Outerchr16:67767331..67839589hg18UCSC Ensembl
Outerchr16:67767331..67839589hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384666
hg194666
hg184666
hg174666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621030, nssv623699, nssv619693
SamplesNA15510, NA18994, NA10860
Known GenesSNTB2
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)nsv509628
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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