A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621635



Internal ID15474297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14708642..15025400hg38UCSC Ensembl
Outerchr16:14802499..15119257hg19UCSC Ensembl
Outerchr16:14710000..15026758hg18UCSC Ensembl
Outerchr16:14710000..15026758hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38316759
hg19316759
hg18316759
hg17316759
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511045
Supporting Variants
SamplesNA15510
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PDXDC1
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)nssv621635
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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