A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510895



Internal ID15478389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1147636..1354277hg38UCSC Ensembl
Outerchr5:1147751..1354392hg19UCSC Ensembl
Outerchr5:1200751..1407392hg18UCSC Ensembl
Outerchr5:1200751..1407392hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38206642
hg19206642
hg18206642
hg17206642
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624296
SamplesNA18994
Known GenesCLPTM1L, MIR4457, SLC6A18, SLC6A19, TERT
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)nsv510895
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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