A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510941



Internal ID15826963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3270172..3455022hg38UCSC Ensembl
Outerchr5:3270286..3455136hg19UCSC Ensembl
Outerchr5:3323286..3508136hg18UCSC Ensembl
Outerchr5:3323286..3508136hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38184851
hg19184851
hg18184851
hg17184851
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621577
SamplesNA15510
Known GenesLINC01019
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)nsv510941
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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