A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510917



Internal ID15826939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:19743759..19927785hg38UCSC Ensembl
Outerchr4:19745382..19929408hg19UCSC Ensembl
Outerchr4:19354480..19538506hg18UCSC Ensembl
Outerchr4:19421651..19605677hg17UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38184027
hg19184027
hg18184027
hg17184027
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621571
SamplesNA15510
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)nsv510917
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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