A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510933



Internal ID15826955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:579008..839158hg38UCSC Ensembl
Outerchr5:579123..839273hg19UCSC Ensembl
Outerchr5:632123..892273hg18UCSC Ensembl
Outerchr5:632123..892273hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38260151
hg19260151
hg18260151
hg17260151
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621576, nssv624295
SamplesNA15510, NA18994
Known GenesCEP72, LOC100996325, TPPP, ZDHHC11
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)nsv510933
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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