A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619883



Internal ID15818464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45258509..45338796hg38UCSC Ensembl
Outerchr22:45654390..45734677hg19UCSC Ensembl
Outerchr22:44033054..44113341hg18UCSC Ensembl
Outerchr22:43974927..44055214hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
hg173799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508741
Supporting Variants
SamplesNA10860
Known GenesFAM118A, UPK3A
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)nssv619883
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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