A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511114



Internal ID15827136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:125404026..125446586hg38UCSC Ensembl
Outerchr5:124739719..124782279hg19UCSC Ensembl
Outerchr5:124767618..124810178hg18UCSC Ensembl
Outerchr5:124767618..124810178hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3842561
hg1942561
hg1842561
hg1742561
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624298
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)nsv511114
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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