A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508618



Internal ID15824645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11386502..11550821hg38UCSC Ensembl
Outerchr11:11408049..11572368hg19UCSC Ensembl
Outerchr11:11364625..11528944hg18UCSC Ensembl
Outerchr11:11364625..11528944hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38164320
hg19164320
hg18164320
hg17164320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620174
SamplesNA15510
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)nsv508618
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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