A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509048



Internal ID15825074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2143404..2177023hg38UCSC Ensembl
Outerchr5:2143518..2177137hg19UCSC Ensembl
Outerchr5:2196518..2230137hg18UCSC Ensembl
Outerchr5:2196518..2230137hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383917
hg193917
hg183917
hg173917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620807, nssv618036, nssv619406
SamplesCHM, NA15510, NA10860
Known Genes
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)nsv509048
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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