A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509388



Internal ID15825414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:8798803..8821159hg38UCSC Ensembl
Outerchr11:8820350..8842706hg19UCSC Ensembl
Outerchr11:8776926..8799282hg18UCSC Ensembl
Outerchr11:8776926..8799282hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383028
hg193028
hg183028
hg173028
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623818
SamplesNA18994
Known GenesST5
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)nsv509388
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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