A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509517



Internal ID15825543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112269915..112324757hg38UCSC Ensembl
Outerchr13:112924229..112979071hg19UCSC Ensembl
Outerchr13:111972230..112027072hg18UCSC Ensembl
Outerchr13:111972230..112027072hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385826
hg195826
hg185826
hg175826
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619640, nssv620994
SamplesNA15510, 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)nsv509517
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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