A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623454



Internal ID15822027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119107759..119130770hg38UCSC Ensembl
Outerchr5:118443454..118466465hg19UCSC Ensembl
Outerchr5:118471353..118494364hg18UCSC Ensembl
Outerchr5:118471353..118494364hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg384894
hg194894
hg184894
hg174894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509083
Supporting Variants
SamplesNA18994
Known GenesDMXL1
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)nssv623454
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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