A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508652



Internal ID15824679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95435001..95458014hg38UCSC Ensembl
Outerchr11:95168165..95191178hg19UCSC Ensembl
Outerchr11:94807813..94830826hg18UCSC Ensembl
Outerchr11:94807813..94830826hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3823014
hg1923014
hg1823014
hg1723014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618788, nssv617392
SamplesCHM, 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)nsv508652
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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