A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510896



Internal ID15826919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7258634..7296468hg38UCSC Ensembl
Outerchr5:7258747..7296581hg19UCSC Ensembl
Outerchr5:7311747..7349581hg18UCSC Ensembl
Outerchr5:7311747..7349581hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3837835
hg1937835
hg1837835
hg1737835
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618644, nssv621578
SamplesCHM, NA15510
Known GenesMIR4454
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)nsv510896
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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