A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622372



Internal ID15470911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141977397..141992643hg38UCSC Ensembl
Outerchr5:141356962..141372208hg19UCSC Ensembl
Outerchr5:141337146..141352392hg18UCSC Ensembl
Outerchr5:141337146..141352392hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3815247
hg1915247
hg1815247
hg1715247
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511116
Supporting Variants
SamplesNA10860
Known GenesRNF14
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)nssv622372
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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