A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509096



Internal ID15825122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:153926225..153957762hg38UCSC Ensembl
Outerchr5:153305785..153337322hg19UCSC Ensembl
Outerchr5:153285978..153317515hg18UCSC Ensembl
Outerchr5:153285978..153317515hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384138
hg194138
hg184138
hg174138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620838, nssv618047
SamplesCHM, NA15510
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)nsv509096
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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