A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618796



Internal ID15818600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:107351915..107386759hg38UCSC Ensembl
Outerchr11:107222641..107257485hg19UCSC Ensembl
Outerchr11:106727851..106762695hg18UCSC Ensembl
Outerchr11:106727851..106762695hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3834845
hg1934845
hg1834845
hg1734845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508655
Supporting Variants
SamplesNA10860
Known GenesCWF19L2
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)nssv618796
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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