A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508634



Internal ID15824661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58856615..58889909hg38UCSC Ensembl
Outerchr11:58624088..58657382hg19UCSC Ensembl
Outerchr11:58380664..58413958hg18UCSC Ensembl
Outerchr11:58380664..58413958hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3833295
hg1933295
hg1833295
hg1733295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622494
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)nsv508634
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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