A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508620



Internal ID15824647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:28982202..28987586hg38UCSC Ensembl
Outerchr11:29003749..29009133hg19UCSC Ensembl
Outerchr11:28960325..28965709hg18UCSC Ensembl
Outerchr11:28960325..28965709hg17UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg385385
hg195385
hg185385
hg175385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622818
SamplesNA18994
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)nsv508620
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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