A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619023



Internal ID15472141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:39075404..39147379hg38UCSC Ensembl
Outerchr22:39471409..39543384hg19UCSC Ensembl
Outerchr22:37801355..37873330hg18UCSC Ensembl
Outerchr22:37795909..37867884hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3871976
hg1971976
hg1871976
hg1771976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510807
Supporting Variants
SamplesNA10860
Known GenesAPOBEC3G, APOBEC3H, CBX7
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)nssv619023
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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