A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509050



Internal ID15825076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3372280..3455022hg38UCSC Ensembl
Outerchr5:3372394..3455136hg19UCSC Ensembl
Outerchr5:3425394..3508136hg18UCSC Ensembl
Outerchr5:3425394..3508136hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383421
hg193421
hg183421
hg173421
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619408
SamplesNA10860
Known GenesLINC01019
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)nsv509050
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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