A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509100



Internal ID15476598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176770480..176835979hg38UCSC Ensembl
Outerchr5:176197481..176262980hg19UCSC Ensembl
Outerchr5:176130087..176195586hg18UCSC Ensembl
Outerchr5:176130087..176195586hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383571
hg193571
hg183571
hg173571
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623461
SamplesNA18994
Known GenesUNC5A
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)nsv509100
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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