A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511117



Internal ID15827139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163278851..163323078hg38UCSC Ensembl
Outerchr5:162705857..162750084hg19UCSC Ensembl
Outerchr5:162638435..162682662hg18UCSC Ensembl
Outerchr5:162638435..162682662hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3844228
hg1944228
hg1844228
hg1744228
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624301
SamplesNA18994
Known Genes
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)nsv511117
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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