A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622527



Internal ID15474414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69359663..69536861hg38UCSC Ensembl
Outerchr11:69174431..69351629hg19UCSC Ensembl
Outerchr11:68883612..69060810hg18UCSC Ensembl
Outerchr11:68883612..69060810hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38177199
hg19177199
hg18177199
hg17177199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508639
Supporting Variants
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)nssv622527
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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