A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509512



Internal ID15477010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100039611..100109620hg38UCSC Ensembl
Outerchr13:100691865..100761874hg19UCSC Ensembl
Outerchr13:99489866..99559875hg18UCSC Ensembl
Outerchr13:99489866..99559875hg17UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383622
hg193622
hg183622
hg173622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620991, nssv619637
SamplesNA15510, NA10860
Known GenesPCCA
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)nsv509512
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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