A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511045



Internal ID15478539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14708642..15381350hg38UCSC Ensembl
Outerchr16:14802499..15475207hg19UCSC Ensembl
Outerchr16:14710000..15382708hg18UCSC Ensembl
Outerchr16:14710000..15382708hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38672709
hg19672709
hg18672709
hg17672709
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618625, nssv622415, nssv621635
SamplesCHM, NA15510, NA10860
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NTAN1, PDXDC1, RRN3
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)nsv511045
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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