A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617689



Internal ID15816844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123616228..123622228hg38UCSC Ensembl
Outerchr5:122951922..122957922hg19UCSC Ensembl
Outerchr5:122979821..122985821hg18UCSC Ensembl
Outerchr5:122979821..122985821hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507289
Supporting Variants
SamplesCHM
Known GenesCSNK1G3
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)nssv617689
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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