A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509389



Internal ID15476887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11214235..11286237hg38UCSC Ensembl
Outerchr11:11235782..11307784hg19UCSC Ensembl
Outerchr11:11192358..11264360hg18UCSC Ensembl
Outerchr11:11192358..11264360hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg385930
hg195930
hg185930
hg175930
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623826, nssv621149, nssv619877
SamplesNA15510, NA18994, NA10860
Known GenesGALNT18
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)nsv509389
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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